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Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
16006 A4GALT 81479,81479 Order Options and Pricing
AAGAB 81479,81479
AARS1 81479,81479
AARS2 81479,81479
AASS 81479,81479
ABAT 81479,81479
ABCA1 81479,81479
ABCA12 81479,81479
ABCB11 81479,81479
ABCB4 81479,81479
ABCB6 81479,81479
ABCB7 81479,81479
ABCC2 81479,81479
ABCC6 81479,81479
ABCC8 81407,81479
ABCD1 81405,81479
ABCD3 81479,81479
ABCD4 81479,81479
ABCG5 81479,81479
ABCG8 81479,81479
ABHD12 81479,81479
ABHD5 81479,81479
ACACA 81479,81479
ACACB 81479,81479
ACAD8 81479,81479
ACAD9 81479,81479
ACADM 81479,81479
ACADS 81405,81479
ACADSB 81479,81479
ACADVL 81406,81479
ACAT1 81479,81479
ACAT2 81479,81479
ACBD5 81479,81479
ACER3 81479,81479
ACO2 81479,81479
ACOX1 81479,81479
ACOX2 81479,81479
ACSF3 81479,81479
ACSL4 81479,81479
ACY1 81479,81479
ADA 81479,81479
ADA2 81479,81479
ADAR 81479,81479
ADARB1 81479,81479
ADAT3 81479,81479
ADK 81479,81479
ADSL 81479,81479
ADSS1 81479,81479
AFG3L2 81479,81479
AGA 81479,81479
AGK 81479,81479
AGL 81407,81479
AGMO 81479,81479
AGPAT2 81479,81479
AGPS 81479,81479
AGXT 81479,81479
AHCY 81479,81479
AICDA 81479,81479
AIFM1 81479,81479
AIMP1 81479,81479
AIMP2 81479,81479
AK1 81479,81479
AK2 81479,81479
AK7 81479,81479
AKR1C2 81479,81479
AKR1D1 81479,81479
AKT2 81479,81479
ALAD 81479,81479
ALAS2 81479,81479
ALB 81479,81479
ALDH18A1 81479,81479
ALDH3A2 81479,81479
ALDH4A1 81479,81479
ALDH5A1 81479,81479
ALDH6A1 81479,81479
ALDH7A1 81406,81479
ALDOA 81479,81479
ALDOB 81479,81479
ALG1 81479,81479
ALG11 81479,81479
ALG12 81479,81479
ALG13 81479,81479
ALG14 81479,81479
ALG2 81479,81479
ALG3 81479,81479
ALG6 81479,81479
ALG8 81479,81479
ALG9 81479,81479
ALOX12B 81479,81479
ALOXE3 81479,81479
ALPI 81479,81479
ALPL 81479,81479
AMACR 81479,81479
AMN 81479,81479
AMPD1 81479,81479
AMPD2 81479,81479
AMPD3 81479,81479
AMT 81479,81479
ANGPTL3 81479,81479
ANO5 81406,81479
AP1B1 81479,81479
AP1S1 81479,81479
AP1S2 81479,81479
AP2S1 81479,81479
AP3B1 81479,81479
AP3B2 81479,81479
AP3D1 81479,81479
AP4B1 81479,81479
AP4E1 81479,81479
AP4M1 81479,81479
AP4S1 81479,81479
AP5Z1 81479,81479
APOA1 81479,81479
APOA5 81479,81479
APOB 81479,81479
APOC2 81479,81479
APOC3 81479,81479
APOE 81479,81479
APPL1 81479,81479
APRT 81479,81479
APTX 81405,81479
AR 81173,81479
ARCN1 81479,81479
ARFGEF2 81479,81479
ARG1 81479,81479
ARSA 81405,81479
ARSB 81479,81479
ARSG 81479,81479
ASAH1 81479,81479
ASL 81479,81479
ASNS 81479,81479
ASPA 81479,81479
ASS1 81406,81479
ASXL2 81479,81479
ATAD1 81479,81479
ATG5 81479,81479
ATIC 81479,81479
ATP13A2 81479,81479
ATP5F1A 81479,81479
ATP5F1D 81479,81479
ATP5F1E 81479,81479
ATP5MK 81479,81479
ATP6AP1 81479,81479
ATP6AP2 81479,81479
ATP6V0A2 81479,81479
ATP6V1A 81479,81479
ATP6V1E1 81479,81479
ATP7A 81479,81479
ATP7B 81479,81479
ATP8A2 81479,81479
ATP8B1 81479,81479
ATPAF2 81479,81479
AUH 81479,81479
B3GALNT2 81479,81479
B3GALT6 81479,81479
B3GAT3 81479,81479
B3GLCT 81479,81479
B4GALNT1 81479,81479
B4GALT1 81479,81479
B4GALT7 81479,81479
B4GAT1 81479,81479
BAAT 81479,81479
BCAP31 81479,81479
BCAT2 81479,81479
BCKDHA 81405,81479
BCKDHB 81406,81479
BCKDK 81479,81479
BCS1L 81405,81479
BLK 81479,81479
BLOC1S3 81479,81479
BLOC1S6 81479,81479
BLVRA 81479,81479
BMP6 81479,81479
BMS1 81479,81479
BOLA3 81479,81479
BPNT2 81479,81479
BSCL2 81406,81479
BSND 81479,81479
BTD 81404,81479
C1GALT1C1 81479,81479
C1QBP 81479,81479
CA2 81479,81479
CA5A 81479,81479
CACNA1C 81479,81479
CAD 81479,81479
CANT1 81479,81479
CARS1 81479,81479
CARS2 81479,81479
CASR 81405,81479
CBLIF 81479,81479
CBS 81406,81479
CCDC115 81479,81479
CCS 81479,81479
CD320 81479,81479
CEP89 81479,81479
CERS1 81479,81479
CERS3 81479,81479
CERT1 81479,81479
CETP 81479,81479
CHAT 81479,81479
CHCHD10 81479,81479
CHCHD2 81479,81479
CHKB 81479,81479
CHRNE 81479,81479
CHST11 81479,81479
CHST14 81479,81479
CHST3 81479,81479
CHST6 81479,81479
CHSY1 81479,81479
CIDEC 81479,81479
CLDN16 81479,81479
CLDN19 81479,81479
CLN3 81479,81479
CLN5 81479,81479
CLN6 81479,81479
CLN8 81479,81479
CLP1 81479,81479
CLPB 81479,81479
CLPP 81479,81479
CLPX 81479,81479
CLTC 81479,81479
CNNM2 81479,81479
COA3 81479,81479
COA5 81479,81479
COA6 81479,81479
COA7 81479,81479
COA8 81479,81479
COASY 81479,81479
COG1 81479,81479
COG2 81479,81479
COG4 81479,81479
COG5 81479,81479
COG6 81479,81479
COG7 81479,81479
COG8 81479,81479
COPA 81479,81479
COPB2 81479,81479
COQ2 81479,81479
COQ4 81479,81479
COQ5 81479,81479
COQ6 81479,81479
COQ7 81479,81479
COQ8A 81479,81479
COQ8B 81479,81479
COQ9 81479,81479
COX10 81405,81479
COX14 81479,81479
COX15 81405,81479
COX16 81479,81479
COX20 81479,81479
COX4I1 81479,81479
COX4I2 81479,81479
COX5A 81479,81479
COX6A1 81479,81479
COX6A2 81479,81479
COX6B1 81404,81479
COX7B 81479,81479
COX8A 81479,81479
CP 81479,81479
CPOX 81405,81479
CPS1 81479,81479
CPT1A 81479,81479
CPT1C 81479,81479
CPT2 81404,81479
CRAT 81479,81479
CRPPA 81405,81479
CSGALNACT1 81479,81479
CTH 81479,81479
CTNS 81479,81479
CTPS1 81479,81479
CTSA 81479,81479
CTSB 81479,81479
CTSC 81479,81479
CTSD 81479,81479
CTSF 81479,81479
CTSK 81479,81479
CUBN 81479,81479
CYB561 81479,81479
CYB5A 81479,81479
CYB5R3 81479,81479
CYC1 81479,81479
CYCS 81479,81479
CYP11A1 81479,81479
CYP11B1 81405,81479
CYP11B2 81479,81479
CYP17A1 81405,81479
CYP19A1 81479,81479
CYP21A2 81479,81479
CYP27A1 81479,81479
CYP2U1 81479,81479
CYP4F22 81479,81479
CYP51A1 81479,81479
CYP7A1 81479,81479
CYP7B1 81479,81479
D2HGDH 81479,81479
DALRD3 81479,81479
DARS1 81479,81479
DARS2 81479,81479
DBH 81479,81479
DBT 81406,81405
DCXR 81479,81479
DDC 81479,81479
DDHD1 81479,81479
DDHD2 81479,81479
DDOST 81479,81479
DEGS1 81479,81479
DGAT1 81479,81479
DGKE 81479,81479
DGUOK 81405,81479
DHCR24 81479,81479
DHCR7 81405,81479
DHDDS 81479,81479
DHFR 81479,81479
DHODH 81479,81479
DHTKD1 81479,81479
DIABLO 81479,81479
DKC1 81479,81479
DLAT 81406,81479
DLD 81406,81479
DLST 81479,81479
DMGDH 81479,81479
DNA2 81479,81479
DNAJC12 81479,81479
DNAJC19 81479,81479
DNAJC21 81479,81479
DNAJC5 81479,81479
DNAJC6 81479,81479
DNM1 81479,81479
DNM1L 81479,81479
DNM2 81479,81479
DOLK 81479,81479
DPAGT1 81479,81479
DPM1 81479,81479
DPM2 81479,81479
DPM3 81479,81479
DPYD 81479,81479
DPYS 81479,81479
DSE 81479,81479
DTNBP1 81479,81479
DYM 81479,81479
DYNC1H1 81479,81479
DYSF 81479,81479
EARS2 81479,81479
EBP 81479,81479
ECHS1 81479,81479
EFL1 81479,81479
EGF 81479,81479
EHHADH 81479,81479
ELAC2 81479,81479
ELOVL1 81479,81479
ELOVL4 81479,81479
ELOVL5 81479,81479
ELP1 81479,81479
ELP2 81479,81479
EMC1 81479,81479
EMG1 81479,81479
ENO3 81479,81479
ENPP1 81479,81479
ENTPD1 81479,81479
EOGT 81479,81479
EPG5 81479,81479
EPHX1 81479,81479
EPM2A 81404,81479
EPRS1 81479,81479
ERAL1 81479,81479
ESR1 81479,81479
ESR2 81479,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
ETHE1 81479,81479
EXT1 81479,81479
EXT2 81479,81479
EXTL3 81479,81479
FA2H 81479,81479
FAAH2 81479,81479
FAH 81406,81479
FAM111A 81479,81479
FAR1 81479,81479
FARS2 81479,81479
FARSA 81479,81479
FARSB 81479,81479
FASTKD2 81406,81479
FBP1 81479,81479
FBXL4 81479,81479
FCSK 81479,81479
FDFT1 81479,81479
FDPS 81479,81479
FDX2 81479,81479
FDXR 81479,81479
FECH 81479,81479
FH 81479,81479
FIG4 81406,81479
FKRP 81404,81479
FKTN 81405,81479
FLAD1 81479,81479
FMO3 81479,81479
FOLR1 81479,81479
FOXRED1 81479,81479
FTCD 81479,81479
FTH1 81479,81479
FTL 81479,81479
FTSJ1 81406,81405
FUCA1 81479,81479
FUT8 81479,81479
FXN 81479,81479
FXYD2 81479,81479
G6PC1 81479,81479
G6PC3 81479,81479
G6PD 81249,81479
GAA 81406,81479
GABBR2 81479,81479
GABRA1 81479,81479
GABRA6 81479,81479
GABRB1 81479,81479
GABRB2 81479,81479
GABRB3 81479,81479
GABRD 81479,81479
GABRG2 81405,81479
GAD1 81479,81479
GALC 81479,81479
GALE 81479,81479
GALK1 81479,81479
GALM 81479,81479
GALNS 81479,81479
GALNT3 81479,81479
GALT 81406,81479
GAMT 81479,81479
GANAB 81479,81479
GARS1 81406,81479
GATA1 81479,81479
GATB 81479,81479
GATC 81479,81479
GATM 81479,81479
GBA1 81479,81479
GBA2 81479,81479
GBE1 81479,81479
GCDH 81406,81479
GCH1 81405,81479
GCK 81406,81479
GCLC 81479,81479
GCSH 81479,81479
GDAP1 81405,81479
GFER 81479,81479
GFM1 81479,81479
GFM2 81479,81479
GFPT1 81479,81479
GGCX 81479,81479
GGPS1 81479,81479
GK 81479,81479
GLA 81405,81479
GLB1 81479,81479
GLDC 81479,81479
GLRA1 81479,81479
GLRB 81479,81479
GLRX5 81479,81479
GLS 81479,81479
GLUD1 81406,81479
GLUL 81479,81479
GLYCTK 81479,81479
GM2A 81479,81479
GMPPA 81479,81479
GMPPB 81479,81479
GNE 81406,81479
GNMT 81479,81479
GNPAT 81479,81479
GNPTAB 81479,81479
GNPTG 81479,81479
GNS 81479,81479
GON7 81479,81479
GORAB 81479,81479
GOSR2 81479,81479
GOT2 81479,81479
GPAA1 81479,81479
GPD1 81479,81479
GPHN 81479,81479
GPI 81479,81479
GPIHBP1 81479,81479
GPT2 81479,81479
GPX4 81479,81479
GRHPR 81479,81479
GRIA2 81479,81479
GRIA3 81479,81479
GRIA4 81479,81479
GRID2 81479,81479
GRIN1 81479,81479
GRIN2A 81479,81479
GRIN2B 81479,81479
GRIN2D 81479,81479
GRM1 81479,81479
GRM6 81479,81479
GRN 81406,81479
GSR 81479,81479
GSS 81479,81479
GSTZ1 81479,81479
GTPBP3 81479,81479
GUF1 81479,81479
GUSB 81479,81479
GYG1 81479,81479
GYG2 81479,81479
GYS1 81479,81479
GYS2 81479,81479
H6PD 81479,81479
HAAO 81479,81479
HACD1 81479,81479
HADH 81479,81479
HADHA 81406,81479
HADHB 81406,81479
HAL 81479,81479
HAMP 81479,81479
HARS1 81479,81479
HARS2 81479,81479
HCCS 81479,81479
HCFC1 81479,81479
HEPHL1 81479,81479
HEXA 81479,81479
HEXB 81479,81479
HFE 81479,81479
HGD 81479,81479
HGSNAT 81479,81479
HIBCH 81479,81479
HJV 81479,81479
HK1 81479,81479
HLCS 81406,81479
HMBS 81406,81479
HMGCL 81479,81479
HMGCS2 81479,81479
HMOX1 81479,81479
HNF1A 81405,81479
HNF1B 81405,81404
HNF4A 81406,81479
HOGA1 81479,81479
HPD 81479,81479
HPGD 81479,81479
HPRT1 81479,81479
HPS1 81479,81479
HPS3 81479,81479
HPS4 81479,81479
HPS5 81479,81479
HPS6 81479,81479
HS6ST1 81479,81479
HS6ST2 81479,81479
HSD11B1 81479,81479
HSD11B2 81404,81479
HSD17B10 81479,81479
HSD17B3 81479,81479
HSD17B4 81479,81479
HSD3B2 81479,81479
HSD3B7 81479,81479
HSPA9 81479,81479
HSPD1 81479,81479
HTRA2 81479,81479
HYAL1 81479,81479
IARS1 81479,81479
IARS2 81479,81479
IBA57 81479,81479
IDH1 81479,81479
IDH2 81403,81479
IDH3A 81479,81479
IDH3B 81479,81479
IDS 81405,81479
IDUA 81406,81479
IFIH1 81479,81479
IL1RAPL1 81479,81479
IMPDH1 81479,81479
INPP5E 81479,81479
INPP5K 81479,81479
INPPL1 81479,81479
INS 81404,81479
INSR 81479,81479
ISCA1 81479,81479
ISCA2 81479,81479
ISCU 81479,81479
ITPA 81479,81479
ITPR1 81479,81479
ITPR2 81479,81479
IVD 81406,81479
JAGN1 81479,81479
KARS1 81479,81479
KCNJ10 81404,81479
KCNJ11 81403,81479
KCTD7 81479,81479
KDSR 81479,81479
KHK 81479,81479
KIF1A 81479,81479
KIF5A 81479,81479
KIF5C 81479,81479
KLF11 81479,81479
KYNU 81479,81479
L2HGDH 81479,81479
LACC1 81479,81479
LAGE3 81479,81479
LAMP2 81405,81479
LARGE1 81479,81479
LARS1 81479,81479
LARS2 81479,81479
LBR 81479,81479
LCAT 81479,81479
LCT 81479,81479
LDHA 81479,81479
LDHB 81479,81479
LDHD 81479,81479
LDLR 81406,81405
LDLRAP1 81479,81479
LFNG 81479,81479
LHX4 81479,81479
LIAS 81479,81479
LIPA 81479,81479
LIPC 81479,81479
LIPE 81479,81479
LIPH 81479,81479
LIPN 81479,81479
LIPT1 81479,81479
LIPT2 81479,81479
LMAN1 81479,81479
LMBRD1 81479,81479
LMF1 81479,81479
LONP1 81479,81479
LPAR6 81479,81479
LPIN1 81479,81479
LPIN2 81479,81479
LPL 81479,81479
LRPPRC 81479,81479
LRRK2 81408,81479
LSS 81479,81479
LYRM4 81479,81479
LYRM7 81479,81479
LYST 81479,81479
MAFA 81479,81479
MAGT1 81479,81479
MAN1B1 81479,81479
MAN2B1 81479,81479
MANBA 81479,81479
MAOA 81479,81479
MARS1 81479,81479
MARS2 81479,81479
MAT1A 81479,81479
MAT2A 81479,81479
MBOAT7 81479,81479
MBTPS1 81479,81479
MC2R 81479,81479
MCCC1 81406,81479
MCCC2 81406,81479
MCEE 81479,81479
MCFD2 81479,81479
MCOLN1 81479,81479
MDH2 81479,81479
MECR 81479,81479
MFF 81479,81479
MFN2 81406,81479
MFSD2A 81479,81479
MFSD8 81479,81479
MGAT2 81479,81479
MGME1 81479,81479
MICOS13 81479,81479
MICU1 81479,81479
MIPEP 81479,81479
MLPH 81479,81479
MLYCD 81479,81479
MMAA 81405,81479
MMAB 81405,81479
MMACHC 81404,81479
MMADHC 81479,81479
MMUT 81406,81479
MOCOS 81479,81479
MOCS1 81479,81479
MOCS2 81479,81479
MOCS3 81479,81479
MOGS 81479,81479
MPC1 81479,81479
MPDU1 81479,81479
MPI 81405,81479
MPV17 81405,81404
MRAP 81479,81479
MRM2 81479,81479
MRPL12 81479,81479
MRPL3 81479,81479
MRPL44 81479,81479
MRPS14 81479,81479
MRPS16 81479,81479
MRPS2 81479,81479
MRPS22 81479,81479
MRPS23 81479,81479
MRPS28 81479,81479
MRPS34 81479,81479
MRPS7 81479,81479
MSMO1 81479,81479
MTAP 81479,81479
MTFMT 81479,81479
MTHFD1 81479,81479
MTHFR 81479,81479
MTHFS 81479,81479
MTM1 81405,81479
MTMR2 81479,81479
MTO1 81479,81479
MTOR 81479,81479
MTPAP 81479,81479
MTR 81479,81479
MTRFR 81479,81479
MTRR 81479,81479
MTTP 81479,81479
MVD 81479,81479
MVK 81479,81479
MYH3 81479,81479
MYO5A 81479,81479
NADK2 81479,81479
NADSYN1 81479,81479
NAGA 81479,81479
NAGLU 81479,81479
NAGS 81479,81479
NANS 81479,81479
NAPB 81479,81479
NARS1 81479,81479
NARS2 81479,81479
NAT8L 81479,81479
NAXD 81479,81479
NAXE 81479,81479
NBAS 81479,81479
NBEAL2 81479,81479
NDST1 81479,81479
NDUFA1 81404,81479
NDUFA10 81479,81479
NDUFA11 81479,81479
NDUFA12 81479,81479
NDUFA13 81479,81479
NDUFA2 81479,81479
NDUFA4 81479,81479
NDUFA6 81479,81479
NDUFA8 81479,81479
NDUFA9 81479,81479
NDUFAF1 81479,81479
NDUFAF2 81404,81479
NDUFAF3 81479,81479
NDUFAF4 81479,81479
NDUFAF5 81479,81479
NDUFAF6 81479,81479
NDUFAF7 81479,81479
NDUFAF8 81479,81479
NDUFB10 81479,81479
NDUFB11 81479,81479
NDUFB3 81479,81479
NDUFB8 81479,81479
NDUFB9 81479,81479
NDUFC2 81479,81479
NDUFS1 81406,81479
NDUFS2 81479,81479
NDUFS3 81479,81479
NDUFS4 81404,81479
NDUFS6 81479,81479
NDUFS7 81405,81479
NDUFS8 81405,81479
NDUFV1 81405,81479
NDUFV2 81479,81479
NEPRO 81479,81479
NEU1 81479,81479
NEUROD1 81479,81479
NFE2L2 81479,81479
NFS1 81479,81479
NFU1 81479,81479
NGLY1 81479,81479
NHLRC1 81403,81479
NHP2 81479,81479
NMNAT1 81479,81479
NNT 81479,81479
NOP10 81479,81479
NPC1 81406,81479
NPC2 81404,81479
NPL 81479,81479
NPM1 81479,81479
NR1H4 81479,81479
NR3C1 81479,81479
NR3C2 81479,81479
NSDHL 81479,81479
NSUN2 81479,81479
NSUN3 81479,81479
NT5C3A 81479,81479
NT5E 81479,81479
NUBPL 81479,81479
NUDT15 81479,81479
NUS1 81479,81479
OAS1 81479,81479
OAT 81479,81479
OCRL 81479,81479
ODC1 81479,81479
OGDH 81479,81479
OGT 81479,81479
OPA1 81407,81406
OPA3 81479,81479
OPLAH 81479,81479
OSGEP 81479,81479
OTC 81405,81479
OXA1L 81479,81479
OXCT1 81479,81479
PAH 81406,81479
PAM16 81479,81479
PANK2 81479,81479
PAPSS2 81479,81479
PARN 81479,81479
PARS2 81479,81479
PAX4 81479,81479
PC 81406,81479
PCBD1 81479,81479
PCCA 81406,81405
PCCB 81406,81479
PCK1 81479,81479
PCK2 81479,81479
PCSK1 81479,81479
PCSK9 81479,81479
PCYT1A 81479,81479
PCYT2 81479,81479
PDHA1 81406,81405
PDHB 81405,81479
PDHX 81406,81479
PDK3 81479,81479
PDP1 81479,81479
PDSS1 81479,81479
PDSS2 81479,81479
PDX1 81404,81479
PDXK 81479,81479
PEPD 81479,81479
PET100 81479,81479
PET117 81479,81479
PEX1 81479,81479
PEX10 81479,81479
PEX11B 81479,81479
PEX12 81479,81479
PEX13 81479,81479
PEX14 81479,81479
PEX16 81479,81479
PEX19 81479,81479
PEX2 81479,81479
PEX26 81479,81479
PEX3 81479,81479
PEX5 81479,81479
PEX6 81479,81479
PEX7 81479,81479
PFKM 81479,81479
PGAM2 81479,81479
PGAP1 81479,81479
PGAP2 81479,81479
PGAP3 81479,81479
PGK1 81479,81479
PGM1 81479,81479
PGM3 81479,81479
PHGDH 81479,81479
PHKA1 81479,81479
PHKA2 81479,81479
PHKB 81479,81479
PHKG2 81479,81479
PHYH 81479,81479
PHYKPL 81479,81479
PI4KA 81479,81479
PIGA 81479,81479
PIGB 81479,81479
PIGC 81479,81479
PIGG 81479,81479
PIGH 81479,81479
PIGK 81479,81479
PIGL 81479,81479
PIGM 81479,81479
PIGN 81479,81479
PIGO 81479,81479
PIGP 81479,81479
PIGQ 81479,81479
PIGS 81479,81479
PIGT 81479,81479
PIGU 81479,81479
PIGV 81479,81479
PIGW 81479,81479
PIGY 81479,81479
PIK3C2A 81479,81479
PIK3CA 81479,81479
PIK3CD 81479,81479
PIK3R1 81479,81479
PIK3R2 81479,81479
PIK3R5 81479,81479
PIKFYVE 81479,81479
PINK1 81405,81479
PIP5K1C 81479,81479
PISD 81479,81479
PITRM1 81479,81479
PKLR 81405,81479
PLA2G4A 81479,81479
PLA2G6 81479,81479
PLCB1 81479,81479
PLCB3 81479,81479
PLCB4 81479,81479
PLCD1 81479,81479
PLCE1 81407,81479
PLCG2 81479,81479
PLIN1 81479,81479
PLPBP 81479,81479
PMM2 81479,81479
PMPCA 81479,81479
PMPCB 81479,81479
PMVK 81479,81479
PNKD 81406,81479
PNP 81479,81479
PNPLA1 81479,81479
PNPLA2 81479,81479
PNPLA4 81479,81479
PNPLA6 81479,81479
PNPLA8 81479,81479
PNPO 81479,81479
PNPT1 81479,81479
POFUT1 81479,81479
POGLUT1 81479,81479
POLG 81406,81479
POLG2 81479,81479
POLR1A 81479,81479
POLR1B 81479,81479
POLR1C 81479,81479
POLR1D 81479,81479
POLR3A 81479,81479
POLR3B 81479,81479
POMGNT1 81406,81479
POMGNT2 81479,81479
POMK 81479,81479
POMT1 81406,81479
POMT2 81406,81479
POP1 81479,81479
POR 81479,81479
PPA2 81479,81479
PPCS 81479,81479
PPM1K 81479,81479
PPOX 81406,81479
PPP1R15B 81479,81479
PPT1 81479,81479
PRDX1 81479,81479
PRKAG2 81406,81479
PRKCSH 81479,81479
PRKN 81406,81479
PRODH2 81479,81479
PRORP 81479,81479
PRPS1 81479,81479
PRRT2 81479,81479
PSAP 81479,81479
PSAT1 81479,81479
PSPH 81479,81479
PSTPIP1 81479,81479
PTCD3 81479,81479
PTDSS1 81479,81479
PTEN 81321,81323
PTF1A 81479,81479
PTRH2 81479,81479
PTS 81479,81479
PUS1 81479,81479
PUS3 81479,81479
PYCR1 81479,81479
PYCR2 81479,81479
PYGL 81479,81479
PYGM 81406,81479
QARS1 81479,81479
QDPR 81479,81479
QRSL1 81479,81479
RAB18 81479,81479
RAB23 81479,81479
RAB27A 81479,81479
RAB3GAP1 81479,81479
RAB3GAP2 81479,81479
RAB7A 81405,81479
RARS1 81479,81479
RARS2 81479,81479
RBCK1 81479,81479
REN 81479,81479
RFT1 81479,81479
RFX6 81479,81479
RMND1 81479,81479
RMRP 81479,81479
RNASEH1 81479,81479
RNASEH2A 81479,81479
RNASEH2B 81479,81479
RNASEH2C 81479,81479
RNASET2 81479,81479
RNF125 81479,81479
RNF31 81479,81479
RPIA 81479,81479
RPL10 81479,81479
RPL11 81479,81479
RPL13 81479,81479
RPL15 81479,81479
RPL18 81479,81479
RPL21 81479,81479
RPL26 81479,81479
RPL27 81479,81479
RPL35 81479,81479
RPL35A 81479,81479
RPL5 81479,81479
RPS10 81479,81479
RPS15A 81479,81479
RPS17 81479,81479
RPS19 81405,81479
RPS20 81479,81479
RPS23 81479,81479
RPS24 81479,81479
RPS26 81479,81479
RPS27 81479,81479
RPS28 81479,81479
RPS29 81479,81479
RPS7 81479,81479
RPSA 81479,81479
RRM2B 81405,81479
RTN4IP1 81479,81479
RUBCN 81479,81479
RXYLT1 81479,81479
SACS 81479,81479
SAMHD1 81479,81479
SAR1B 81479,81479
SARDH 81479,81479
SARS1 81479,81479
SARS2 81479,81479
SBDS 81479,81479
SBF1 81479,81479
SBF2 81479,81479
SC5D 81479,81479
SCARB1 81479,81479
SCARB2 81479,81479
SCO1 81405,81479
SCO2 81404,81479
SCP2 81479,81479
SCYL1 81479,81479
SCYL2 81479,81479
SDHA 81479,81479
SDHAF1 81479,81479
SDHAF2 81479,81479
SDHB 81405,81479
SDHC 81405,81479
SDHD 81404,81479
SDR9C7 81479,81479
SEC23A 81479,81479
SEC23B 81479,81479
SECISBP2 81479,81479
SELENBP1 81479,81479
SELENOI 81479,81479
SEPSECS 81479,81479
SERAC1 81479,81479
SERPINA1 81479,81479
SFXN4 81479,81479
SGMS2 81479,81479
SGPL1 81479,81479
SGSH 81479,81479
SHMT2 81479,81479
SHPK 81479,81479
SI 81479,81479
SLC10A1 81479,81479
SLC10A2 81479,81479
SLC10A7 81479,81479
SLC11A2 81479,81479
SLC13A3 81479,81479
SLC13A5 81479,81479
SLC16A1 81479,81479
SLC17A5 81479,81479
SLC18A2 81479,81479
SLC19A1 81479,81479
SLC19A2 81479,81479
SLC19A3 81479,81479
SLC1A1 81479,81479
SLC1A2 81479,81479
SLC1A3 81479,81479
SLC1A4 81479,81479
SLC22A12 81479,81479
SLC22A5 81405,81479
SLC25A1 81479,81479
SLC25A11 81479,81479
SLC25A12 81479,81479
SLC25A13 81479,81479
SLC25A15 81479,81479
SLC25A19 81479,81479
SLC25A20 81405,81404
SLC25A21 81479,81479
SLC25A22 81479,81479
SLC25A24 81479,81479
SLC25A26 81479,81479
SLC25A3 81479,81479
SLC25A32 81479,81479
SLC25A38 81479,81479
SLC25A4 81404,81479
SLC25A42 81479,81479
SLC25A46 81479,81479
SLC26A1 81479,81479
SLC26A2 81479,81479
SLC27A4 81479,81479
SLC27A5 81479,81479
SLC28A1 81479,81479
SLC29A3 81479,81479
SLC2A1 81405,81479
SLC2A10 81479,81479
SLC2A2 81479,81479
SLC2A9 81479,81479
SLC30A10 81479,81479
SLC30A2 81479,81479
SLC30A9 81479,81479
SLC33A1 81479,81479
SLC35A1 81479,81479
SLC35A2 81479,81479
SLC35A3 81479,81479
SLC35C1 81479,81479
SLC35D1 81479,81479
SLC36A2 81479,81479
SLC37A4 81406,81479
SLC38A8 81479,81479
SLC39A13 81479,81479
SLC39A14 81479,81479
SLC39A4 81479,81479
SLC39A8 81479,81479
SLC3A1 81479,81479
SLC40A1 81479,81479
SLC45A1 81479,81479
SLC46A1 81479,81479
SLC52A1 81479,81479
SLC52A2 81479,81479
SLC52A3 81479,81479
SLC5A1 81479,81479
SLC5A2 81479,81479
SLC5A6 81479,81479
SLC5A7 81479,81479
SLC6A1 81479,81479
SLC6A17 81479,81479
SLC6A19 81479,81479
SLC6A2 81479,81479
SLC6A20 81479,81479
SLC6A3 81479,81479
SLC6A5 81479,81479
SLC6A6 81479,81479
SLC6A8 81479,81479
SLC6A9 81479,81479
SLC7A14 81479,81479
SLC7A2 81479,81479
SLC7A3 81479,81479
SLC7A5 81479,81479
SLC7A7 81479,81479
SLC7A9 81479,81479
SLC9A7 81479,81479
SLCO1B1 81479,81479
SLCO1B3 81479,81479
SLCO2A1 81479,81479
SMPD1 81479,81479
SMS 81479,81479
SNAP25 81479,81479
SNAP29 81479,81479
SNX14 81479,81479
SORCS3 81479,81479
SORD 81479,81479
SPART 81479,81479
SPATA5 81479,81479
SPG11 81407,81479
SPG7 81406,81405
SPNS2 81479,81479
SPR 81479,81479
SPTLC1 81479,81479
SPTLC2 81479,81479
SQOR 81479,81479
SRD5A2 81479,81479
SRD5A3 81479,81479
SSBP1 81479,81479
SSR4 81479,81479
ST3GAL3 81479,81479
ST3GAL5 81479,81479
STAP1 81479,81479
STAR 81479,81479
STAT2 81479,81479
STEAP3 81479,81479
STING1 81479,81479
STS 81479,81479
STT3A 81479,81479
STT3B 81479,81479
STX11 81479,81479
STX1B 81479,81479
STXBP1 81406,81479
STXBP2 81479,81479
SUCLA2 81479,81479
SUCLG1 81479,81479
SUGCT 81479,81479
SULT2B1 81479,81479
SUMF1 81479,81479
SUOX 81479,81479
SURF1 81405,81479
SV2A 81479,81479
SYN1 81479,81479
SYNJ1 81479,81479
SYT1 81479,81479
SYT14 81479,81479
SYT2 81479,81479
TACO1 81404,81479
TAFAZZIN 81406,81479
TALDO1 81479,81479
TANGO2 81479,81479
TARS1 81479,81479
TARS2 81479,81479
TAT 81479,81479
TBC1D24 81479,81479
TBK1 81479,81479
TBXAS1 81479,81479
TCN1 81479,81479
TCN2 81479,81479
TCOF1 81479,81479
TDO2 81479,81479
TECPR2 81479,81479
TECR 81479,81479
TF 81479,81479
TFAM 81479,81479
TFR2 81479,81479
TFRC 81479,81479
TH 81406,81479
THAP11 81479,81479
THG1L 81479,81479
TIMM22 81479,81479
TIMM50 81479,81479
TIMM8A 81479,81479
TIMMDC1 81479,81479
TK2 81405,81479
TKFC 81479,81479
TKT 81479,81479
TMEM126A 81479,81479
TMEM126B 81479,81479
TMEM165 81479,81479
TMEM199 81479,81479
TMEM70 81479,81479
TMLHE 81479,81479
TMPRSS6 81479,81479
TOP3A 81479,81479
TOR1A 81404,81479
TP53RK 81479,81479
TPI1 81479,81479
TPK1 81479,81479
TPMT 81479,81479
TPP1 81479,81479
TPRKB 81479,81479
TRAK1 81479,81479
TRAPPC11 81479,81479
TRAPPC12 81479,81479
TRAPPC2 81479,81479
TRAPPC2L 81479,81479
TRAPPC4 81479,81479
TRAPPC6B 81479,81479
TRAPPC9 81479,81479
TREH 81479,81479
TREX1 81479,81479
TRIM37 81479,81479
TRIP11 81479,81479
TRIT1 81479,81479
TRMT1 81479,81479
TRMT10A 81479,81479
TRMT10C 81479,81479
TRMT5 81479,81479
TRMU 81479,81479
TRNT1 81479,81479
TRPM6 81479,81479
TSEN15 81479,81479
TSEN2 81479,81479
TSEN34 81479,81479
TSEN54 81479,81479
TSFM 81479,81479
TSR2 81479,81479
TTC19 81479,81479
TTPA 81404,81479
TUFM 81479,81479
TUSC3 81479,81479
TWNK 81404,81479
TXN2 81479,81479
TXNRD2 81479,81479
TYMP 81405,81479
TYR 81404,81479
UBIAD1 81479,81479
UBTF 81479,81479
UCP2 81479,81479
UGDH 81479,81479
UGP2 81479,81479
UGT1A1 81479,81479
UMOD 81406,81479
UMPS 81479,81479
UNC13D 81479,81479
UNG 81479,81479
UPB1 81479,81479
UQCC2 81479,81479
UQCC3 81479,81479
UQCRB 81479,81479
UQCRC2 81479,81479
UQCRFS1 81479,81479
UQCRQ 81479,81479
UROC1 81479,81479
UROD 81479,81479
UROS 81479,81479
VAC14 81479,81479
VAMP1 81479,81479
VAMP2 81479,81479
VAPB 81479,81479
VARS1 81479,81479
VARS2 81479,81479
VIPAS39 81479,81479
VKORC1 81479,81479
VLDLR 81479,81479
VMA21 81479,81479
VPS11 81479,81479
VPS13A 81479,81479
VPS13B 81408,81407
VPS13C 81479,81479
VPS13D 81479,81479
VPS33A 81479,81479
VPS33B 81479,81479
VPS45 81479,81479
VPS4A 81479,81479
WARS1 81479,81479
WARS2 81479,81479
WDR4 81479,81479
WDR45 81479,81479
XDH 81479,81479
XPNPEP3 81479,81479
XYLT1 81479,81479
XYLT2 81479,81479
YARS1 81479,81479
YARS2 81479,81479
YIF1B 81479,81479
YME1L1 81479,81479
YRDC 81479,81479
ZFYVE26 81479,81479
ZNF143 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
16006Genes x (1317)81479 81173(x1), 81249(x1), 81321(x1), 81323(x1), 81403(x3), 81404(x25), 81405(x54), 81406(x58), 81407(x6), 81408(x2), 81479(x2482) $1540 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

28 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Inherited metabolic disorders (IMDs) and mitochondrial disorders associated with defects in nuclear-encoded mitochondrial genes are clinically and genetically heterogeneous disorders. Phenotypes range in severity and progression and can involve single or multiple organ systems. Currently, it is suggested that any condition in which impairment of a specific biochemical pathway or enzyme function is intrinsic to the pathophysiology of the disease be considered an IMD, regardless of whether it is associated with specific abnormalities in biochemical tests (Morava et al. 2015. PubMed ID: 26420281; Ferreira et al. 2019. PubMed ID: 29884839). Mitochondrial disorders, or oxidative phosphorylation (OXPHOS) disorders, are characterized by reduced activity of one (isolated) or more (combined) mitochondrial respiratory chain enzyme complexes (Ghezzi and Zeviani. 2018. PubMed ID: 30030362). Based on a nosology first proposed in 2019 and an International Classification of IMDs (ICIMD) published in 2021, nearly 1,500 genes divided into more than 100 groups are currently associated with IMDs and nuclear-encoded mitochondrial disorders (Ferreira et al. 2019. PubMed ID: 29884839; Saudubray et al. 2019. PubMed ID: 30883825; Ferreira et al. 2021. PubMed ID: 33340416), with certainly more to be discovered. Online resources with current data from the nosology and ICIMD efforts are available to allow one to explore the various IMDs and OXPHOS disorders by searching classification tables and specific disorders (Nosology of Inborn Errors of Metabolism at http://iembase.org/classification/n-search.asp; International Classification of Inherited Metabolic Disorders at http://www.icimd.org/).

This panel includes over 1,300 genes focusing on IMDs and OXPHOS disorders. Broadly, the IMDs included in this panel are divided into disorders affecting the following metabolic processes: amino acid, carbohydrate, peptide, amine, and fatty acid and ketone body metabolism; energy substrate metabolism, nuclear-encoded disorders of oxidative phosphorylation, mitochondrial cofactor biosynthesis, mitochondrial DNA maintenance and replication, and intermediary metabolism; lipid and lipoprotein, nucleotide and nucleic acid metabolism; tetrapyrrole metabolism, complex molecule degradation, vitamin and cofactor metabolism, trace element and metal metabolism, neurotransmitter metabolism, endocrine metabolic disorders, congenital disorders of glycosylation, and disorders of organelle biogenesis, dynamics and interactions. Furthermore, a variety of studies have been published focusing on IMDs with available treatment (Saudubray et al. 2006. PubMed ID: 16763886; Sirrs et al. 2013. PubMed ID: 24427801; Leach et al. 2014. PubMed ID: 25433678; van Karnebeek et al. 2018. PubMed ID: 30559706; Verheijen et al. 2020. PubMed ID: 31534212; Ondruskova et al. 2021. PubMed ID: 32991969; Hoytema van Konijnenburg et al. 2021. PubMed ID: 33845862). The majority of the genes from those studies have been included in this panel.

Diagnosis of patients with IMDs or OXPHOS disorders may involve a variety of complimentary techniques, including classical biochemical laboratory tests, proteomics, lipidomics, glycomics, metabolomics, and molecular technologies including sequencing and copy number analysis (Morava et al. 2015. PubMed ID: 26420281).

Genetics

This test includes genes on the current Nosology of Inborn Errors of Metabolism and ICIMD websites; as well as those identified through literature searches that have a reported association with IMDs.

Inherited metabolic disorders are genetically heterogenous. Disorders may be inherited in an autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) manner or may arise de novo. Causative variants may include missense, nonsense, frameshift, splicing, regulatory, or copy number alterations.

See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity of the disorders tested in this panel, the clinical sensitivity of this specific grouping of genes is difficult to estimate. We are currently unaware of any reports in the literature in which these genes have been sequenced together.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.0% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Testing is recommended for patients with clinical or laboratory tests suggestive of an inherited metabolic disorder (IMD) or mitochondrial disorder. This test is appropriate when sequential exome testing may be desired.

Genes

Official Gene Symbol OMIM ID
A4GALT 607922
AAGAB 614888
AARS1 601065
AARS2 612035
AASS 605113
ABAT 137150
ABCA1 600046
ABCA12 607800
ABCB11 603201
ABCB4 171060
ABCB6 605452
ABCB7 300135
ABCC2 601107
ABCC6 603234
ABCC8 600509
ABCD1 300371
ABCD3 170995
ABCD4 603214
ABCG5 605459
ABCG8 605460
ABHD12 613599
ABHD5 604780
ACACA 200350
ACACB 601557
ACAD8 604773
ACAD9 611103
ACADM 607008
ACADS 606885
ACADSB 600301
ACADVL 609575
ACAT1 607809
ACAT2 100678
ACBD5 616618
ACER3 617036
ACO2 100850
ACOX1 609751
ACOX2 601641
ACSF3 614245
ACSL4 300157
ACY1 104620
ADA 608958
ADA2 607575
ADAR 146920
ADARB1 601218
ADAT3 615302
ADK 102750
ADSL 608222
ADSS1 612498
AFG3L2 604581
AGA 613228
AGK 610345
AGL 610860
AGMO 613738
AGPAT2 603100
AGPS 603051
AGXT 604285
AHCY 180960
AICDA 605257
AIFM1 300169
AIMP1 603605
AIMP2 600859
AK1 103000
AK2 103020
AK7 615364
AKR1C2 600450
AKR1D1 604741
AKT2 164731
ALAD 125270
ALAS2 301300
ALB 103600
ALDH18A1 138250
ALDH3A2 609523
ALDH4A1 606811
ALDH5A1 610045
ALDH6A1 603178
ALDH7A1 107323
ALDOA 103850
ALDOB 612724
ALG1 605907
ALG11 613666
ALG12 607144
ALG13 300776
ALG14 612866
ALG2 607905
ALG3 608750
ALG6 604566
ALG8 608103
ALG9 606941
ALOX12B 603741
ALOXE3 607206
ALPI 171740
ALPL 171760
AMACR 604489
AMN 605799
AMPD1 102770
AMPD2 102771
AMPD3 102772
AMT 238310
ANGPTL3 604774
ANO5 608662
AP1B1 600157
AP1S1 603531
AP1S2 300629
AP2S1 602242
AP3B1 603401
AP3B2 602166
AP3D1 607246
AP4B1 607245
AP4E1 607244
AP4M1 602296
AP4S1 607243
AP5Z1 613653
APOA1 107680
APOA5 606368
APOB 107730
APOC2 608083
APOC3 107720
APOE 107741
APPL1 604299
APRT 102600
APTX 606350
AR 313700
ARCN1 600820
ARFGEF2 605371
ARG1 608313
ARSA 607574
ARSB 611542
ARSG 610008
ASAH1 613468
ASL 608310
ASNS 108370
ASPA 608034
ASS1 603470
ASXL2 612991
ATAD1 614452
ATG5 604261
ATIC 601731
ATP13A2 610513
ATP5F1A 164360
ATP5F1D 603150
ATP5F1E 606153
ATP5MK 615204
ATP6AP1 300197
ATP6AP2 300556
ATP6V0A2 611716
ATP6V1A 607027
ATP6V1E1 108746
ATP7A 300011
ATP7B 606882
ATP8A2 605870
ATP8B1 602397
ATPAF2 608918
AUH 600529
B3GALNT2 610194
B3GALT6 615291
B3GAT3 606374
B3GLCT 610308
B4GALNT1 601873
B4GALT1 137060
B4GALT7 604327
B4GAT1 605517
BAAT 602938
BCAP31 300398
BCAT2 113530
BCKDHA 608348
BCKDHB 248611
BCKDK 614901
BCS1L 603647
BLK 191305
BLOC1S3 609762
BLOC1S6 604310
BLVRA 109750
BMP6 112266
BMS1 611448
BOLA3 613183
BPNT2 614010
BSCL2 606158
BSND 606412
BTD 609019
C1GALT1C1 300611
C1QBP 601269
CA2 611492
CA5A 114761
CACNA1C 114205
CAD 114010
CANT1 613165
CARS1 123859
CARS2 612800
CASR 601199
CBLIF 609342
CBS 613381
CCDC115 613734
CCS 603864
CD320 606475
CEP89 615470
CERS1 606919
CERS3 615276
CERT1 604677
CETP 118470
CHAT 118490
CHCHD10 615903
CHCHD2 616244
CHKB 612395
CHRNE 100725
CHST11 610128
CHST14 608429
CHST3 603799
CHST6 605294
CHSY1 608183
CIDEC 612120
CLDN16 603959
CLDN19 610036
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLP1 608757
CLPB 616254
CLPP 601119
CLPX 615611
CLTC 118955
CNNM2 607803
COA3 614775
COA5 613920
COA6 614772
COA7 615623
COA8 616003
COASY 609855
COG1 606973
COG2 606974
COG4 606976
COG5 606821
COG6 606977
COG7 606978
COG8 606979
COPA 601924
COPB2 606990
COQ2 609825
COQ4 612898
COQ5 616359
COQ6 614647
COQ7 601683
COQ8A 606980
COQ8B 615567
COQ9 612837
COX10 602125
COX14 614478
COX15 603646
COX16 618064
COX20 614698
COX4I1 123864
COX4I2 607976
COX5A 603773
COX6A1 602072
COX6A2 602009
COX6B1 124089
COX7B 603792
COX8A 123870
CP 117700
CPOX 612732
CPS1 608307
CPT1A 600528
CPT1C 608846
CPT2 600650
CRAT 600184
CRPPA 614631
CSGALNACT1 616615
CTH 607657
CTNS 606272
CTPS1 123860
CTSA 613111
CTSB 116810
CTSC 602365
CTSD 116840
CTSF 603539
CTSK 601105
CUBN 602997
CYB561 600019
CYB5A 613218
CYB5R3 613213
CYC1 123980
CYCS 123970
CYP11A1 118485
CYP11B1 610613
CYP11B2 124080
CYP17A1 609300
CYP19A1 107910
CYP21A2 613815
CYP27A1 606530
CYP2U1 610670
CYP4F22 611495
CYP51A1 601637
CYP7A1 118455
CYP7B1 603711
D2HGDH 609186
DALRD3 618904
DARS1 603084
DARS2 610956
DBH 609312
DBT 248610
DCXR 608347
DDC 107930
DDHD1 614603
DDHD2 615003
DDOST 602202
DEGS1 615843
DGAT1 604900
DGKE 601440
DGUOK 601465
DHCR24 606418
DHCR7 602858
DHDDS 608172
DHFR 126060
DHODH 126064
DHTKD1 614984
DIABLO 605219
DKC1 300126
DLAT 608770
DLD 238331
DLST 126063
DMGDH 605849
DNA2 601810
DNAJC12 606060
DNAJC19 608977
DNAJC21 617048
DNAJC5 611203
DNAJC6 608375
DNM1 602377
DNM1L 603850
DNM2 602378
DOLK 610746
DPAGT1 191350
DPM1 603503
DPM2 603564
DPM3 605951
DPYD 612779
DPYS 613326
DSE 605942
DTNBP1 607145
DYM 607461
DYNC1H1 600112
DYSF 603009
EARS2 612799
EBP 300205
ECHS1 602292
EFL1 617538
EGF 131530
EHHADH 607037
ELAC2 605367
ELOVL1 611813
ELOVL4 605512
ELOVL5 611805
ELP1 603722
ELP2 616054
EMC1 616846
EMG1 611531
ENO3 131370
ENPP1 173335
ENTPD1 601752
EOGT 614789
EPG5 615068
EPHX1 132810
EPM2A 607566
EPRS1 138295
ERAL1 607435
ESR1 133430
ESR2 601663
ETFA 608053
ETFB 130410
ETFDH 231675
ETHE1 608451
EXT1 608177
EXT2 608210
EXTL3 605744
FA2H 611026
FAAH2 300654
FAH 613871
FAM111A 615292
FAR1 616107
FARS2 611592
FARSA 602918
FARSB 609690
FASTKD2 612322
FBP1 611570
FBXL4 605654
FCSK 608675
FDFT1 184420
FDPS 134629
FDX2 614585
FDXR 103270
FECH 612386
FH 136850
FIG4 609390
FKRP 606596
FKTN 607440
FLAD1 610595
FMO3 136132
FOLR1 136430
FOXRED1 613622
FTCD 606806
FTH1 134770
FTL 134790
FTSJ1 300499
FUCA1 612280
FUT8 602589
FXN 606829
FXYD2 601814
G6PC1 613742
G6PC3 611045
G6PD 305900
GAA 606800
GABBR2 607340
GABRA1 137160
GABRA6 137143
GABRB1 137190
GABRB2 600232
GABRB3 137192
GABRD 137163
GABRG2 137164
GAD1 605363
GALC 606890
GALE 606953
GALK1 604313
GALM 137030
GALNS 612222
GALNT3 601756
GALT 606999
GAMT 601240
GANAB 104160
GARS1 600287
GATA1 305371
GATB 603645
GATC 617210
GATM 602360
GBA1 606463
GBA2 609471
GBE1 607839
GCDH 608801
GCH1 600225
GCK 138079
GCLC 606857
GCSH 238330
GDAP1 606598
GFER 600924
GFM1 606639
GFM2 606544
GFPT1 138292
GGCX 137167
GGPS1 606982
GK 300474
GLA 300644
GLB1 611458
GLDC 238300
GLRA1 138491
GLRB 138492
GLRX5 609588
GLS 138280
GLUD1 138130
GLUL 138290
GLYCTK 610516
GM2A 613109
GMPPA 615495
GMPPB 615320
GNE 603824
GNMT 606628
GNPAT 602744
GNPTAB 607840
GNPTG 607838
GNS 607664
GON7 617436
GORAB 607983
GOSR2 604027
GOT2 138150
GPAA1 603048
GPD1 138420
GPHN 603930
GPI 172400
GPIHBP1 612757
GPT2 138210
GPX4 138322
GRHPR 604296
GRIA2 138247
GRIA3 305915
GRIA4 138246
GRID2 602368
GRIN1 138249
GRIN2A 138253
GRIN2B 138252
GRIN2D 602717
GRM1 604473
GRM6 604096
GRN 138945
GSR 138300
GSS 601002
GSTZ1 603758
GTPBP3 608536
GUF1 617064
GUSB 611499
GYG1 603942
GYG2 300198
GYS1 138570
GYS2 138571
H6PD 138090
HAAO 604521
HACD1 610467
HADH 601609
HADHA 600890
HADHB 143450
HAL 609457
HAMP 606464
HARS1 142810
HARS2 600783
HCCS 300056
HCFC1 300019
HEPHL1 618455
HEXA 606869
HEXB 606873
HFE 613609
HGD 607474
HGSNAT 610453
HIBCH 610690
HJV 608374
HK1 142600
HLCS 609018
HMBS 609806
HMGCL 613898
HMGCS2 600234
HMOX1 141250
HNF1A 142410
HNF1B 189907
HNF4A 600281
HOGA1 613597
HPD 609695
HPGD 601688
HPRT1 308000
HPS1 604982
HPS3 606118
HPS4 606682
HPS5 607521
HPS6 607522
HS6ST1 604846
HS6ST2 300545
HSD11B1 600713
HSD11B2 614232
HSD17B10 300256
HSD17B3 605573
HSD17B4 601860
HSD3B2 613890
HSD3B7 607764
HSPA9 600548
HSPD1 118190
HTRA2 606441
HYAL1 607071
IARS1 600709
IARS2 612801
IBA57 615316
IDH1 147700
IDH2 147650
IDH3A 601149
IDH3B 604526
IDS 300823
IDUA 252800
IFIH1 606951
IL1RAPL1 300206
IMPDH1 146690
INPP5E 613037
INPP5K 607875
INPPL1 600829
INS 176730
INSR 147670
ISCA1 611006
ISCA2 615317
ISCU 611911
ITPA 147520
ITPR1 147265
ITPR2 600144
IVD 607036
JAGN1 616012
KARS1 601421
KCNJ10 602208
KCNJ11 600937
KCTD7 611725
KDSR 136440
KHK 614058
KIF1A 601255
KIF5A 602821
KIF5C 604593
KLF11 603301
KYNU 605197
L2HGDH 609584
LACC1 613409
LAGE3 300060
LAMP2 309060
LARGE1 603590
LARS1 151350
LARS2 604544
LBR 600024
LCAT 606967
LCT 603202
LDHA 150000
LDHB 150100
LDHD 607490
LDLR 606945
LDLRAP1 605747
LFNG 602576
LHX4 602146
LIAS 607031
LIPA 613497
LIPC 151670
LIPE 151750
LIPH 607365
LIPN 613924
LIPT1 610284
LIPT2 617659
LMAN1 601567
LMBRD1 612625
LMF1 611761
LONP1 605490
LPAR6 609239
LPIN1 605518
LPIN2 605519
LPL 609708
LRPPRC 607544
LRRK2 609007
LSS 600909
LYRM4 613311
LYRM7 615831
LYST 606897
MAFA 610303
MAGT1 300715
MAN1B1 604346
MAN2B1 609458
MANBA 609489
MAOA 309850
MARS1 156560
MARS2 609728
MAT1A 610550
MAT2A 601468
MBOAT7 606048
MBTPS1 603355
MC2R 607397
MCCC1 609010
MCCC2 609014
MCEE 608419
MCFD2 607788
MCOLN1 605248
MDH2 154100
MECR 608205
MFF 614785
MFN2 608507
MFSD2A 614397
MFSD8 611124
MGAT2 602616
MGME1 615076
MICOS13 616658
MICU1 605084
MIPEP 602241
MLPH 606526
MLYCD 606761
MMAA 607481
MMAB 607568
MMACHC 609831
MMADHC 611935
MMUT 609058
MOCOS 613274
MOCS1 603707
MOCS2 603708
MOCS3 609277
MOGS 601336
MPC1 614738
MPDU1 604041
MPI 154550
MPV17 137960
MRAP 609196
MRM2 606906
MRPL12 602375
MRPL3 607118
MRPL44 611849
MRPS14 611978
MRPS16 609204
MRPS2 611971
MRPS22 605810
MRPS23 611985
MRPS28 611990
MRPS34 611994
MRPS7 611974
MSMO1 607545
MTAP 156540
MTFMT 611766
MTHFD1 172460
MTHFR 607093
MTHFS 604197
MTM1 300415
MTMR2 603557
MTO1 614667
MTOR 601231
MTPAP 613669
MTR 156570
MTRFR 613541
MTRR 602568
MTTP 157147
MVD 603236
MVK 251170
MYH3 160720
MYO5A 160777
NADK2 615787
NADSYN1 608285
NAGA 104170
NAGLU 609701
NAGS 608300
NANS 605202
NAPB 611270
NARS1 108410
NARS2 612803
NAT8L 610647
NAXD 615910
NAXE 608862
NBAS 608025
NBEAL2 614169
NDST1 600853
NDUFA1 300078
NDUFA10 603835
NDUFA11 612638
NDUFA12 614530
NDUFA13 609435
NDUFA2 602137
NDUFA4 603833
NDUFA6 602138
NDUFA8 603359
NDUFA9 603834
NDUFAF1 606934
NDUFAF2 609653
NDUFAF3 612911
NDUFAF4 611776
NDUFAF5 612360
NDUFAF6 612392
NDUFAF7 615898
NDUFAF8 618461
NDUFB10 603843
NDUFB11 300403
NDUFB3 603839
NDUFB8 602140
NDUFB9 601445
NDUFC2 603845
NDUFS1 157655
NDUFS2 602985
NDUFS3 603846
NDUFS4 602694
NDUFS6 603848
NDUFS7 601825
NDUFS8 602141
NDUFV1 161015
NDUFV2 600532
NEPRO 617089
NEU1 608272
NEUROD1 601724
NFE2L2 600492
NFS1 603485
NFU1 608100
NGLY1 610661
NHLRC1 608072
NHP2 606470
NMNAT1 608700
NNT 607878
NOP10 606471
NPC1 607623
NPC2 601015
NPL 611412
NPM1 164040
NR1H4 603826
NR3C1 138040
NR3C2 600983
NSDHL 300275
NSUN2 610916
NSUN3 617491
NT5C3A 606224
NT5E 129190
NUBPL 613621
NUDT15 615792
NUS1 610463
OAS1 164350
OAT 613349
OCRL 300535
ODC1 165640
OGDH 613022
OGT 300255
OPA1 605290
OPA3 606580
OPLAH 614243
OSGEP 610107
OTC 300461
OXA1L 601066
OXCT1 601424
PAH 612349
PAM16 614336
PANK2 606157
PAPSS2 603005
PARN 604212
PARS2 612036
PAX4 167413
PC 608786
PCBD1 126090
PCCA 232000
PCCB 232050
PCK1 614168
PCK2 614095
PCSK1 162150
PCSK9 607786
PCYT1A 123695
PCYT2 602679
PDHA1 300502
PDHB 179060
PDHX 608769
PDK3 300906
PDP1 605993
PDSS1 607429
PDSS2 610564
PDX1 600733
PDXK 179020
PEPD 613230
PET100 614770
PET117 614771
PEX1 602136
PEX10 602859
PEX11B 603867
PEX12 601758
PEX13 601789
PEX14 601791
PEX16 603360
PEX19 600279
PEX2 170993
PEX26 608666
PEX3 603164
PEX5 600414
PEX6 601498
PEX7 601757
PFKM 610681
PGAM2 612931
PGAP1 611655
PGAP2 615187
PGAP3 611801
PGK1 311800
PGM1 171900
PGM3 172100
PHGDH 606879
PHKA1 311870
PHKA2 300798
PHKB 172490
PHKG2 172471
PHYH 602026
PHYKPL 614683
PI4KA 600286
PIGA 311770
PIGB 604122
PIGC 601730
PIGG 616918
PIGH 600154
PIGK 605087
PIGL 605947
PIGM 610273
PIGN 606097
PIGO 614730
PIGP 605938
PIGQ 605754
PIGS 610271
PIGT 610272
PIGU 608528
PIGV 610274
PIGW 610275
PIGY 610662
PIK3C2A 603601
PIK3CA 171834
PIK3CD 602839
PIK3R1 171833
PIK3R2 603157
PIK3R5 611317
PIKFYVE 609414
PINK1 608309
PIP5K1C 606102
PISD 612770
PITRM1 618211
PKLR 609712
PLA2G4A 600522
PLA2G6 603604
PLCB1 607120
PLCB3 600230
PLCB4 600810
PLCD1 602142
PLCE1 608414
PLCG2 600220
PLIN1 170290
PLPBP 604436
PMM2 601785
PMPCA 613036
PMPCB 603131
PMVK 607622
PNKD 609023
PNP 164050
PNPLA1 612121
PNPLA2 609059
PNPLA4 300102
PNPLA6 603197
PNPLA8 612123
PNPO 603287
PNPT1 610316
POFUT1 607491
POGLUT1 615618
POLG 174763
POLG2 604983
POLR1A 616404
POLR1B 602000
POLR1C 610060
POLR1D 613715
POLR3A 614258
POLR3B 614366
POMGNT1 606822
POMGNT2 614828
POMK 615247
POMT1 607423
POMT2 607439
POP1 602486
POR 124015
PPA2 609988
PPCS 609853
PPM1K 611065
PPOX 600923
PPP1R15B 613257
PPT1 600722
PRDX1 176763
PRKAG2 602743
PRKCSH 177060
PRKN 602544
PRODH2 616377
PRORP 609947
PRPS1 311850
PRRT2 614386
PSAP 176801
PSAT1 610936
PSPH 172480
PSTPIP1 606347
PTCD3 614918
PTDSS1 612792
PTEN 601728
PTF1A 607194
PTRH2 608625
PTS 612719
PUS1 608109
PUS3 616283
PYCR1 179035
PYCR2 616406
PYGL 613741
PYGM 608455
QARS1 603727
QDPR 612676
QRSL1 617209
RAB18 602207
RAB23 606144
RAB27A 603868
RAB3GAP1 602536
RAB3GAP2 609275
RAB7A 602298
RARS1 107820
RARS2 611524
RBCK1 610924
REN 179820
RFT1 611908
RFX6 612659
RMND1 614917
RMRP 157660
RNASEH1 604123
RNASEH2A 606034
RNASEH2B 610326
RNASEH2C 610330
RNASET2 612944
RNF125 610432
RNF31 612487
RPIA 180430
RPL10 312173
RPL11 604175
RPL13 113703
RPL15 604174
RPL18 604179
RPL21 603636
RPL26 603704
RPL27 607526
RPL35 618315
RPL35A 180468
RPL5 603634
RPS10 603632
RPS15A 603674
RPS17 180472
RPS19 603474
RPS20 603682
RPS23 603683
RPS24 602412
RPS26 603701
RPS27 603702
RPS28 603685
RPS29 603633
RPS7 603658
RPSA 150370
RRM2B 604712
RTN4IP1 610502
RUBCN 613516
RXYLT1 605862
SACS 604490
SAMHD1 606754
SAR1B 607690
SARDH 604455
SARS1 607529
SARS2 612804
SBDS 607444
SBF1 603560
SBF2 607697
SC5D 602286
SCARB1 601040
SCARB2 602257
SCO1 603644
SCO2 604272
SCP2 184755
SCYL1 607982
SCYL2 616365
SDHA 600857
SDHAF1 612848
SDHAF2 613019
SDHB 185470
SDHC 602413
SDHD 602690
SDR9C7 609769
SEC23A 610511
SEC23B 610512
SECISBP2 607693
SELENBP1 604188
SELENOI 607915
SEPSECS 613009
SERAC1 614725
SERPINA1 107400
SFXN4 615564
SGMS2 611574
SGPL1 603729
SGSH 605270
SHMT2 138450
SHPK 605060
SI 609845
SLC10A1 182396
SLC10A2 601295
SLC10A7 611459
SLC11A2 600523
SLC13A3 606411
SLC13A5 608305
SLC16A1 600682
SLC17A5 604322
SLC18A2 193001
SLC19A1 600424
SLC19A2 603941
SLC19A3 606152
SLC1A1 133550
SLC1A2 600300
SLC1A3 600111
SLC1A4 600229
SLC22A12 607096
SLC22A5 603377
SLC25A1 190315
SLC25A11 604165
SLC25A12 603667
SLC25A13 603859
SLC25A15 603861
SLC25A19 606521
SLC25A20 613698
SLC25A21 607571
SLC25A22 609302
SLC25A24 608744
SLC25A26 611037
SLC25A3 600370
SLC25A32 610815
SLC25A38 610819
SLC25A4 103220
SLC25A42 610823
SLC25A46 610826
SLC26A1 610130
SLC26A2 606718
SLC27A4 604194
SLC27A5 603314
SLC28A1 606207
SLC29A3 612373
SLC2A1 138140
SLC2A10 606145
SLC2A2 138160
SLC2A9 606142
SLC30A10 611146
SLC30A2 609617
SLC30A9 604604
SLC33A1 603690
SLC35A1 605634
SLC35A2 314375
SLC35A3 605632
SLC35C1 605881
SLC35D1 610804
SLC36A2 608331
SLC37A4 602671
SLC38A8 615585
SLC39A13 608735
SLC39A14 608736
SLC39A4 607059
SLC39A8 608732
SLC3A1 104614
SLC40A1 604653
SLC45A1 605763
SLC46A1 611672
SLC52A1 607883
SLC52A2 607882
SLC52A3 613350
SLC5A1 182380
SLC5A2 182381
SLC5A6 604024
SLC5A7 608761
SLC6A1 137165
SLC6A17 610299
SLC6A19 608893
SLC6A2 163970
SLC6A20 605616
SLC6A3 126455
SLC6A5 604159
SLC6A6 186854
SLC6A8 300036
SLC6A9 601019
SLC7A14 615720
SLC7A2 601872
SLC7A3 300443
SLC7A5 600182
SLC7A7 603593
SLC7A9 604144
SLC9A7 300368
SLCO1B1 604843
SLCO1B3 605495
SLCO2A1 601460
SMPD1 607608
SMS 300105
SNAP25 600322
SNAP29 604202
SNX14 616105
SORCS3 606285
SORD 182500
SPART 607111
SPATA5 613940
SPG11 610844
SPG7 602783
SPNS2 612584
SPR 182125
SPTLC1 605712
SPTLC2 605713
SQOR 617658
SRD5A2 607306
SRD5A3 611715
SSBP1 600439
SSR4 300090
ST3GAL3 606494
ST3GAL5 604402
STAP1 604298
STAR 600617
STAT2 600556
STEAP3 609671
STING1 612374
STS 300747
STT3A 601134
STT3B 608605
STX11 605014
STX1B 601485
STXBP1 602926
STXBP2 601717
SUCLA2 603921
SUCLG1 611224
SUGCT 609187
SULT2B1 604125
SUMF1 607939
SUOX 606887
SURF1 185620
SV2A 185860
SYN1 313440
SYNJ1 604297
SYT1 185605
SYT14 610949
SYT2 600104
TACO1 612958
TAFAZZIN 300394
TALDO1 602063
TANGO2 616830
TARS1 187790
TARS2 612805
TAT 613018
TBC1D24 613577
TBK1 604834
TBXAS1 274180
TCN1 189905
TCN2 613441
TCOF1 606847
TDO2 191070
TECPR2 615000
TECR 610057
TF 190000
TFAM 600438
TFR2 604720
TFRC 190010
TH 191290
THAP11 609119
THG1L 618802
TIMM22 607251
TIMM50 607381
TIMM8A 300356
TIMMDC1 615534
TK2 188250
TKFC 615844
TKT 606781
TMEM126A 612988
TMEM126B 615533
TMEM165 614726
TMEM199 616815
TMEM70 612418
TMLHE 300777
TMPRSS6 609862
TOP3A 601243
TOR1A 605204
TP53RK 608679
TPI1 190450
TPK1 606370
TPMT 187680
TPP1 607998
TPRKB 608680
TRAK1 608112
TRAPPC11 614138
TRAPPC12 614139
TRAPPC2 300202
TRAPPC2L 610970
TRAPPC4 610971
TRAPPC6B 610397
TRAPPC9 611966
TREH 275360
TREX1 606609
TRIM37 605073
TRIP11 604505
TRIT1 617840
TRMT1 611669
TRMT10A 616013
TRMT10C 615423
TRMT5 611023
TRMU 610230
TRNT1 612907
TRPM6 607009
TSEN15 608756
TSEN2 608753
TSEN34 608754
TSEN54 608755
TSFM 604723
TSR2 300945
TTC19 613814
TTPA 600415
TUFM 602389
TUSC3 601385
TWNK 606075
TXN2 609063
TXNRD2 606448
TYMP 131222
TYR 606933
UBIAD1 611632
UBTF 600673
UCP2 601693
UGDH 603370
UGP2 191760
UGT1A1 191740
UMOD 191845
UMPS 613891
UNC13D 608897
UNG 191525
UPB1 606673
UQCC2 614461
UQCC3 616097
UQCRB 191330
UQCRC2 191329
UQCRFS1 191327
UQCRQ 612080
UROC1 613012
UROD 613521
UROS 606938
VAC14 604632
VAMP1 185880
VAMP2 185881
VAPB 605704
VARS1 192150
VARS2 612802
VIPAS39 613401
VKORC1 608547
VLDLR 192977
VMA21 310440
VPS11 608549
VPS13A 605978
VPS13B 607817
VPS13C 608879
VPS13D 608877
VPS33A 610034
VPS33B 608552
VPS45 610035
VPS4A 609982
WARS1 191050
WARS2 604733
WDR4 605924
WDR45 300526
XDH 607633
XPNPEP3 613553
XYLT1 608124
XYLT2 608125
YARS1 603623
YARS2 610957
YIF1B 619109
YME1L1 607472
YRDC 612276
ZFYVE26 612012
ZNF143 603433
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
18 Hydroxylase Deficiency AR 203400
2,4-dienoyl-CoA reductase deficiency AR 616034
2-aminoadipic 2-oxoadipic aciduria AR 204750
2-Methyl-3-Hydroxybutyric Aciduria XL 300438
2-Methylbutyryl-CoA Dehydrogenase Deficiency AR 610006
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency AR 210200
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of AR 201810
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency AR 246450
3-Methylcrotonyl CoA Carboxylase 2 Deficiency AR 210210
3-Methylglutaconic Aciduria AR 250950
3-Methylglutaconic Aciduria Type 2 XL 302060
3-Methylglutaconic Aciduria Type 3 AR 258501
3-Methylglutaconic Aciduria Type V AR 610198
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome AR 614739
3-methylglutaconic aciduria, type IX AR 617698
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
3-methylglutaconic aciduria, type VIII AR 617248
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency AR 264600
46,XY Sex Reversal 8 AR 614279
5-oxoprolinase deficiency AR 260005
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency AR 261640
Abnormal hair, joint laxity, and developmental delay AR 261990
Aceruloplasminemia AR 604290
Acetyl-CoA Acetyltransferase-2 Deficiency 614055
Acetyl-CoA Carboxylase Deficiency AR 613933
Achondrogenesis, Type Ia AR 200600
Achondrogenesis, Type Ib AR 600972
Acrodermatitis Enteropathica AR 201100
Acrofacial dysostosis, Cincinnati type AD 616462
ACTH Resistance AR 202200
Acute Intermittent Porphyria AD 176000
Adams-Oliver Syndrome 4 AR 615297
Adenine Phosphoribosyltransferase Deficiency AR 614723
Adenosine Triphosphate, Elevated, Of Erythrocytes AD 102900
Adenylate Kinase Deficiency, Hemolytic Anemia Due To AR 612631
Adenylosuccinate Lyase Deficiency AR 103050
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency AR 201910
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency AR 202010
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 613743
Adrenoleukodystrophy XL 300100
Adult Hypophosphatasia AR 146300
Adult Onset Ataxia With Oculomotor Apraxia AR 208920
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant AD 182980
Agammaglobulinemia 7, Autosomal Recessive AR 615214
AGAT Deficiency AR 612718
Age-Related Macular Degeneration 1 AD 603075
AICAR Transformylase/Imp Cyclohydrolase Deficiency AR 608688
Aicardi-Goutieres Syndrome 1 AR 225750
Aicardi-Goutieres Syndrome 2 AR 610181
Aicardi-Goutieres Syndrome 3 AR 610329
Aicardi-Goutieres Syndrome 4 AR 610333
Aicardi-Goutieres Syndrome 5 AR 612952
Aicardi-Goutieres Syndrome 6 AR 615010
Aicardi-Goutieres Syndrome 7 AD 615846
Al-Gazali syndrome AR 609465
Alacrima, Achalasia, and Mental Retardation Syndrome AR 615510
Albinism, Ocular, With Sensorineural Deafness 103470
Alkaptonuria AR 203500
Alopecia-mental retardation syndrome 4 AR 618840
Alpha, Alpha-Trehalase Deficiency AR 612119
Alpha-1-Antitrypsin Deficiency AR 613490
Alpha-Ketoglutarate Dehydrogenase Deficiency AR 203740
Alpha-Methylacetoacetic Aciduria AR 203750
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Alzheimer Disease, Type 2 AD 104310
Alzheimer Disease, Type 3 AD 607822
Alzheimer's Disease AD 104300
Aminoacylase 1 Deficiency AR 609924
Amish Infantile Epilepsy Syndrome AR 609056
Amish Lethal Microcephaly AR 607196
Aml - Acute Myeloid Leukemia 601626
Amyotrophic lateral sclerosis 5, juvenile AR 602099
Amyotrophic Lateral Sclerosis Type 11 AD 612577
Amyotrophic Lateral Sclerosis Type 8 AD 608627
Amyotrophic Lateral Sclerosis, Susceptibility to, 25 AD 617921
Analbuminemia AR 616000
Anauxetic Dysplasia AR 607095
Anauxetic dysplasia 2 AR 617396
Anauxetic dysplasia 3 AR 618853
Androgen Resistance Syndrome XL 300068
Anemia Sideroblastic And Spinocerebellar Ataxia XL 301310
Anemia, Hypochromic Microcytic, With Iron Overload AR 206100
Anemia, hypochromic microcytic, with iron overload 2 AD 615234
Anemia, sideroblastic, 3, pyridoxine-refractory AR 616860
Anemia, sideroblastic, 4 AD 182170
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive AR 205950
Anhidrosis, isolated, with normal sweat glands AR 106190
Aniridia, Cerebellar Ataxia, And Mental Retardation AR 206700
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis AR 201750
Aplasia cutis congenita, nonsyndromic AD 107600
Aplastic Anemia 609135
ApoA-I and apoC-III deficiency, combined 618463
Apolipoprotein C2 Deficiency AR 207750
Apparent Mineralocorticoid Excess AR 218030
Arginase Deficiency AR 207800
Argininosuccinate Lyase Deficiency AR 207900
Aromatase Deficiency 613546
Arterial Calcification Of Infancy AR 208000
Arterial Calcification, Generalized, of Infancy, 2 AR 614473
Arterial Tortuosity Syndrome AR 208050
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum AR 618766
Arthrogryposis multiplex congenita 5 AR 618947
Arthrogryposis Renal Dysfunction Cholestasis Syndrome AR 208085
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) AD 618436
Arthrogryposis, Distal, Type 8 AD 178110
Arthrogryposis, Mental Retardation, and Seizures AR 615553
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 AR 613404
Arts Syndrome XL 301835
Asparagine synthetase deficiency AR 615574
Aspartylglycosaminuria AR 208400
Asplenia, isolated congenital AD 271400
Ataxia With Vitamin E Deficiency AR 277460
Ataxia-Oculomotor Apraxia 3 AR 615217
Atelosteogenesis, Type II AR 256050
Atransferrinemia AR 209300
Auditory neuropathy and optic atrophy AR 617717
Auriculocondylar syndrome 2 AR 614669
Autism, Susceptibility To, X-Linked 5 300847
Autism, Susceptibility to, X-linked 6 XL 300872
Autoimmune interstitial lung, joint, and kidney disease AD 616414
Autoinflammation, antibody deficiency, and immune dysregulation syndrome AD 614878
Autosomal Recessive Cutis Laxa Type 3A AR 219150
Baker-Gordon syndrome AD 618218
Bartter Syndrome Type 4 AR 602522
Basal Ganglia Disease, Biotin-Responsive AR 607483
Behr Syndrome AR 210000
Benign Recurrent Intrahepatic Cholestasis 1 AR 243300
Benign Recurrent Intrahepatic Cholestasis 2 AR 605479
Beta-D-Mannosidosis AR 248510
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency AR 250620
Beta-Ureidopropionase Deficiency AR 613161
BH4-Deficient Hyperphenylalaninemia D AR 264070
Bile acid conjugation defect 1 AR 619232
Bile Acid Malabsorption, Primary AR 613291
Bile Acid Synthesis Defect, Congenital, 1 AR 607765
Bile Acid Synthesis Defect, Congenital, 2 AR 235555
Bile Acid Synthesis Defect, Congenital, 3 AR 613812
Bile Acid Synthesis Defect, Congenital, 4 AR 214950
Bile Acid Synthesis Defect, Congenital, 5 AR 616278
Bile acid synthesis defect, congenital, 6 AR 617308
Bilirubin, Serum Level Of, Quantitative Trait Locus 1 601816
Birk-Landau-Perez syndrome AR 617595
Bjornstad Syndrome AR 262000
Body Mass Index Quantitative Trait Locus 12 612362
Body Mass Index Quantitative Trait Locus 4 607447
Bone Marrow Failure Syndrome 3 AR 617052
Boucher-Neuhauser syndrome AR 215470
Bowen-Conradi Syndrome AR 211180
Brachycephaly, trichomegaly, and developmental delay AD 617412
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes AR 612847
Branched-chain ketoacid dehydrogenase kinase deficiency 614923
Brown-Vialetto-Van Laere Syndrome AR 211530
Brown-Vialetto-Van Laere syndrome 2 AR 614707
Brugada Syndrome 3 611875
Bulbo-Spinal Atrophy X-Linked XL 313200
Calcification Of Joints And Arteries AR 211800
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia AD 126550
Carbohydrate-Deficient Glycoprotein Syndrome Type II AR 212066
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 AR 615119
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 AR 616500
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 AR 616501
Cardiomyopathy, Dilated, 1gg AR 613642
Cardiomyopathy, dilated, 2C AR 618189
Carnitine Palmitoyltransferase I Deficiency AR 255120
Carnitine Palmitoyltransferase II Deficiency, Infantile AR 600649
Carnitine Palmitoyltransferase II Deficiency, Late-Onset AR 255110
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal AR 608836
Carnitine-Acylcarnitine Translocase Deficiency AR 212138
Carpenter Syndrome AR 201000
Cataract 38 AR 614691
Cataract 44 AR 616509
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia AR 616007
Cataracts, spastic paraparesis, and speech delay AD 619338
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 AR 615268
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation AR 616875
Cerebral Creatine Deficiency Syndrome 1 XL 300352
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome AR 609528
Cerebral Folate Deficiency AR 613068
Cerebrotendinous Xanthomatosis AR 213700
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 11 AR 614706
Ceroid Lipofuscinosis Neuronal 12 AR 606693
Ceroid Lipofuscinosis Neuronal 13 AR 615362
Ceroid Lipofuscinosis Neuronal 14 AR 611726
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive AR 204300
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant AD 162350
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant AR 610003
Chanarin-Dorfman Syndrome AR 275630
Charcot-Marie-Tooth Disease Type 2B AD 600882
Charcot-Marie-Tooth Disease Type 2D AD 601472
Charcot-Marie-Tooth Disease Type 2K AR 607831
Charcot-Marie-Tooth disease, axonal, type 2A2B AR 617087
Charcot-Marie-Tooth disease, axonal, type 2EE AR 618400
Charcot-Marie-Tooth Disease, Axonal, Type 2O AD 614228
Charcot-Marie-Tooth disease, axonal, type 2V AD 616491
Charcot-Marie-Tooth disease, axonal, type 2W AD 616625
Charcot-Marie-Tooth disease, axonal, type 2X AR 616668
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive AR 607706
Charcot-Marie-Tooth Disease, Dominant Intermediate B AD 606482
Charcot-Marie-Tooth Disease, Dominant Intermediate C AD 608323
Charcot-Marie-Tooth Disease, Recessive Intermediate A AR 608340
Charcot-Marie-Tooth Disease, Recessive Intermediate B AR 613641
Charcot-Marie-Tooth Disease, Recessive Intermediate D AR 616039
Charcot-Marie-Tooth Disease, Type 2A2 AD 609260
Charcot-Marie-Tooth Disease, Type 2N AD 613287
Charcot-Marie-Tooth Disease, Type 2Q AD 615025
Charcot-Marie-Tooth Disease, Type 2U AD 616280
Charcot-Marie-Tooth Disease, Type 4A AR 214400
Charcot-Marie-Tooth Disease, Type 4B1 AR 601382
Charcot-Marie-Tooth Disease, Type 4B2 AR 604563
Charcot-Marie-Tooth Disease, Type 4B3 AR 615284
Charcot-Marie-Tooth Disease, Type 4J AR 611228
Charcot-Marie-Tooth Disease, Type 4K AR 616684
Charcot-Marie-Tooth Disease, X-linked Dominant, 6 XL 300905
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
Chediak-Higashi Syndrome AR 214500
Chilblain lupus 2 AD 614415
Chilblain Lupus Erythematosus AD 610448
Child Syndrome XL 308050
Childhood Hypophosphatasia AR 241510
CHIME syndrome AR 280000
Cholecystitis AR 600803
Cholestasis Of Pregnancy AD 147480
Cholestasis, intrahepatic, of pregnancy, 3 AR 614972
Cholestasis, Progressive Familial Intrahepatic 2 AR 601847
Cholestasis, Progressive Familial Intrahepatic 3 AR 602347
Cholestasis, progressive familial intrahepatic, 5 AR 617049
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency AR 201710
Chondrodysplasia Punctata 2 X-Linked Dominant XL 302960
Chondrodysplasia with Joint Dislocations, Gpapp Type AR 614078
Chondrosarcoma 215300
Choreoacanthocytosis AR 200150
Chronic Obstructive Pulmonary Disease 606963
Chylomicron Retention Disease AR 246700
CIMDAG syndrome AD 619273
Citrin Deficiency AR 605814
Citrullinemia Type I AR 215700
Citrullinemia Type II AR 603471
CK syndrome XL 300831
CLAPO syndrome, somatic 613089
CLOVE syndrome, somatic 612918
CODAS syndrome AR 600373
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 Deficiency, Primary, 2 AR 614651
Coenzyme Q10 deficiency, primary, 3 AR 614652
Coenzyme Q10 Deficiency, Primary, 4 AR 612016
Coenzyme Q10 Deficiency, Primary, 5 AR 614654
Coenzyme Q10 deficiency, primary, 6 AR 614650
Coenzyme Q10 Deficiency, Primary, 7 AR 616276
Coenzyme Q10 Deficiency, Primary, 8 AR 616733
Coenzyme Q10 deficiency, primary, 9 AR 619028
Cohen Syndrome AR 216550
Cole Disease AD 615522
Combined D-2- and L-2-HydroxyGlutaric Aciduria AR 615182
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia AR 617780
Combined Malonic And Methylmalonic Aciduria 614265
Combined Oxidative Phosphorylation Deficiency 1 AR 609060
Combined Oxidative Phosphorylation Deficiency 10 AR 614702
Combined Oxidative Phosphorylation Deficiency 11 AR 614922
Combined Oxidative Phosphorylation Deficiency 12 AR 614924
Combined Oxidative Phosphorylation Deficiency 13 AR 614932
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 15 AR 614947
Combined Oxidative Phosphorylation Deficiency 16 AR 615395
Combined Oxidative Phosphorylation Deficiency 17 AR 615440
Combined Oxidative Phosphorylation Deficiency 18 AR 615578
Combined Oxidative Phosphorylation Deficiency 19 AR 615595
Combined Oxidative Phosphorylation Deficiency 2 AR 610498
Combined Oxidative Phosphorylation Deficiency 20 AR 615917
Combined Oxidative Phosphorylation Deficiency 21 AR 615918
Combined Oxidative Phosphorylation Deficiency 22 AR 616045
Combined Oxidative Phosphorylation Deficiency 23 AR 616198
Combined Oxidative Phosphorylation Deficiency 24 AR 616239
Combined Oxidative Phosphorylation Deficiency 25 AR 616430
Combined Oxidative Phosphorylation Deficiency 26 AR 616539
Combined Oxidative Phosphorylation Deficiency 27 AR 616672
Combined oxidative phosphorylation deficiency 28 AR 616794
Combined oxidative phosphorylation deficiency 29 AR 616811
Combined Oxidative Phosphorylation Deficiency 3 AR 610505
Combined Oxidative Phosphorylation Deficiency 30 AR 616974
Combined oxidative phosphorylation deficiency 31 AR 617228
Combined oxidative phosphorylation deficiency 32 AR 617664
Combined oxidative phosphorylation deficiency 33 AR 617713
Combined Oxidative Phosphorylation Deficiency 34 AR 617872
Combined Oxidative Phosphorylation Deficiency 35 AR 617873
Combined oxidative phosphorylation deficiency 36 AR 617950
Combined oxidative phosphorylation deficiency 37 AR 618329
Combined oxidative phosphorylation deficiency 38 AR 618378
Combined oxidative phosphorylation deficiency 39 AR 618397
Combined Oxidative Phosphorylation Deficiency 4 AR 610678
Combined oxidative phosphorylation deficiency 40 AR 618835
Combined oxidative phosphorylation deficiency 41 AR 618838
Combined oxidative phosphorylation deficiency 42 AR 618839
Combined oxidative phosphorylation deficiency 43 AR 618851
Combined oxidative phosphorylation deficiency 44 AR 618855
Combined oxidative phosphorylation deficiency 45 AR 618951
Combined oxidative phosphorylation deficiency 47 AR 618958
Combined oxidative phosphorylation deficiency 48 619012
Combined Oxidative Phosphorylation Deficiency 5 AR 611719
Combined oxidative phosphorylation deficiency 51 AR 619057
Combined oxidative phosphorylation deficiency 52 AR 619386
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
Combined Oxidative Phosphorylation Deficiency 7 AR 613559
Combined Oxidative Phosphorylation Deficiency 8 AR 614096
Combined Oxidative Phosphorylation Deficiency 9 AR 614582
Combined oxidative phosphorylation defiency 46 AR 618952
Combined Saposin Deficiency AR 611721
Complete Trisomy 21 Syndrome 190685
Congenital Cataracts, Hearing Loss, and Neurodegeneration AR 614482
Congenital Cystic Disease Of Liver AD 174050
Congenital Disorder of Deglycosylation AR 615273
Congenital Disorder Of Glycosylation Type 1A AR 212065
Congenital Disorder Of Glycosylation Type 1B AR 602579
Congenital Disorder Of Glycosylation Type 1C AR 603147
Congenital Disorder Of Glycosylation Type 1D AR 601110
Congenital Disorder Of Glycosylation Type 1E AR 608799
Congenital Disorder Of Glycosylation Type 1F AR 609180
Congenital Disorder Of Glycosylation Type 1G AR 607143
Congenital Disorder Of Glycosylation Type 1H AR 608104
Congenital Disorder Of Glycosylation Type 1I AR 607906
Congenital Disorder Of Glycosylation Type 1J AR 608093
Congenital Disorder Of Glycosylation Type 1K AR 608540
Congenital Disorder Of Glycosylation Type 1L AR 608776
Congenital Disorder Of Glycosylation Type 1M AR 610768
Congenital Disorder Of Glycosylation Type 1O AR 612937
Congenital Disorder Of Glycosylation Type 1P AR 613661
Congenital Disorder Of Glycosylation Type 1Q AR 612379
Congenital Disorder Of Glycosylation Type 2C AR 266265
Congenital Disorder Of Glycosylation Type 2D AR 607091
Congenital Disorder Of Glycosylation Type 2E AR 608779
Congenital Disorder Of Glycosylation Type 2F AR 603585
Congenital Disorder Of Glycosylation Type 2G AR 611209
Congenital Disorder Of Glycosylation Type 2I AR 613612
Congenital Disorder Of Glycosylation Type IIb AR 606056
Congenital Disorder Of Glycosylation Type IIh 611182
Congenital Disorder Of Glycosylation Type IIj AR 613489
Congenital Disorder of Glycosylation Type IIk AR 614727
Congenital Disorder of Glycosylation Type IIl AR 614576
Congenital Disorder of Glycosylation Type IIm XL 300896
Congenital Disorder of Glycosylation Type IIn AR 616721
Congenital Disorder of Glycosylation Type IIo AR 616828
Congenital Disorder of Glycosylation Type IIp AR 616829
Congenital Disorder of Glycosylation Type IIq AR 617395
Congenital Disorder Of Glycosylation Type In AR 612015
Congenital Disorder of Glycosylation Type Ir AR 614507
Congenital Disorder of Glycosylation Type It AR 614921
Congenital Disorder of Glycosylation Type Iu AR 615042
Congenital Disorder of Glycosylation Type Iw AR 615596
Congenital Disorder of Glycosylation Type Ix AR 615597
Congenital Disorder of Glycosylation Type Iy XL 300934
Congenital disorder of glycosylation with defective fucosylation 1 AR 618005
Congenital disorder of glycosylation with defective fucosylation 2 AR 618324
Congenital disorder of glycosylation, type 1aa AR 617082
Congenital disorder of glycosylation, type Icc XL 301031
Congenital disorder of glycosylation, type IIr XL 301045
Congenital disorder of glycosylation, type IIw AD 619525
Congenital Generalized Lipodystrophy Type 1 AR 608594
Congenital Generalized Lipodystrophy Type 2 AR 269700
Congenital Glucose-Galactose Malabsorption AR 606824
Congenital Hyperammonemia, Type I AR 237300
Congenital Lactase Deficiency AR 223000
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 AR 613153
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B AR 606612
Congenital Myasthenic Syndrome - RAPSN AR 608931
Contractures, pterygia, and variable skeletal fusions syndrome 1B AR 618469
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis AD 602066
Cortical dysplasia, complex, with other brain malformations 2 AD 615282
Corticosterone Methyloxidase Type II Deficiency AR 610600
Cortisone reductase deficiency 2 AD 614662
Coumarin Resistance AD 122700
Cowchock Syndrome XL 310490
Cowden Disease AD 158350
Cowden syndrome 5 615108
Cowden syndrome 7 AD 616858
Craniolenticulosutural Dysplasia AR 607812
Crigler-Najjar Syndrome, Type I AR 218800
Crigler-Najjar Syndrome, Type II AR 606785
Cutis Laxa, Autosomal Dominant 3 AD 616603
Cutis Laxa, Autosomal Recessive, Type IIA AR 219200
Cutis Laxa, Autosomal Recessive, Type IIB AR 612940
Cutis Laxa, Autosomal Recessive, Type IIC AR 617402
Cutis Laxa, Autosomal Recessive, Type IID AR 617403
Cutis Laxa, Autosomal Recessive, Type IIIB 614438
Cystathioninuria AR 219500
Cystinosis AR 219800
Cystinosis, Ocular Nonnephropathic AR 219750
Cystinuria AR 220100
D-2-Alpha Hydroxyglutaric Aciduria AR 600721
D-2-Hydroxyglutaric Aciduria 2 613657
D-Bifunctional Protein Deficiency AR 261515
D-lactic aciduria with susceptibility to gout AR 245450
Danon Disease XL 300257
Deafness , autosomal recessive 86 AR 614617
Deafness, Aminoglycoside-Induced MT 580000
Deafness, Autosomal Dominant 64 AD 614152
Deafness, autosomal dominant 65 AD 616044
Deafness, autosomal recessive 115 AR 618457
Deafness, autosomal recessive 70 AR 614934
Deafness, autosomal recessive 89 AR 613916
Deafness, autosomal recessive 94 AR 618434
Deafness, congenital, and adult-onset progressive leukoencephalopathy AR 619196
Deafness, Dystonia, and Cerebral Hypomyelination XL 300475
Deafness, X-Linked 1 XL 304500
Deafness, X-Linked 5 XL 300614
Deficiency Of (R)-20-Hydroxysteroid Dehydrogenase AR 604931
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase AR 231530
Deficiency Of Alpha-Mannosidase AR 248500
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AR 608643
Deficiency Of Butyryl-CoA Dehydrogenase AR 201470
Deficiency Of Galactokinase AR 230200
Deficiency Of Glycerate Kinase AR 220120
Deficiency Of Guanidinoacetate Methyltransferase AR 612736
Deficiency Of Isobutyryl-CoA Dehydrogenase AR 611283
Deficiency Of Pyrroline-5-Carboxylate Reductase AR 239510
Deficiency Of Ribose-5-Phosphate Isomerase AR 608611
Deficiency Of Steroid 17-Alpha-Monooxygenase AR 202110
Deficiency Of Transaldolase AR 606003
Dent Disease 2 XL 300555
Desbuquois Dysplasia 2 AR 615777
Desbuquois Syndrome AR 251450
Desmosterolosis AR 602398
Developmental and Epileptic Encephalopathy 4 AD 612164
Developmental and epileptic encephalopathy 84 AR 618792
Developmental and epileptic encephalopathy 86 AR 618910
Developmental and epileptic encephalopathy 89 AR 619124
Developmental Delay and Seizures with or without Movement Abnormalities AD 617836
Diabetes Mellitus Type 1 AR 222100
Diabetes Mellitus, Insulin-Dependent, 2 AD 125852
Diabetes Mellitus, Insulin-Dependent, 20 612520
Diabetes Mellitus, Ketosis-Prone AR 612227
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Diabetes mellitus, permanent neonatal AR 618858
Diabetes mellitus, permanent neonatal 3, with or without neurologic features AR 618857
Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis AR 609069
Diabetes, permanent neonatal 2, with or without neurologic features AD 618856
Diamond Blackfan anemia 15 with mandibulofacial dysostosis AD 606164
Diamond-Blackfan Anemia 1 AD 105650
Diamond-Blackfan Anemia 10 AD 613309
Diamond-Blackfan Anemia 11 AD 614900
Diamond-Blackfan Anemia 12 AD 615550
Diamond-Blackfan anemia 13 AD 615909
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis XL 300946
Diamond-Blackfan anemia 16 AD 617408
Diamond-Blackfan anemia 17 AD 617409
Diamond-Blackfan anemia 18 AD 618310
Diamond-Blackfan anemia 19 AD 618312
Diamond-Blackfan anemia 20 AD 618313
Diamond-Blackfan Anemia 3 AD 610629
Diamond-Blackfan Anemia 4 AD 612527
Diamond-Blackfan Anemia 5 AD 612528
Diamond-Blackfan Anemia 6 AD 612561
Diamond-Blackfan Anemia 7 AD 612562
Diamond-Blackfan Anemia 8 AD 612563
Diamond-Blackfan Anemia 9 AD 613308
Diaphyseal medullary stenosis with malignant fibrous histiocytoma AD 112250
Diarrhea 7, protein-losing enteropathy type AR 615863
Diastrophic Dysplasia AR 222600
Dicarboxylic Aminoaciduria AR 222730
Digital Clubbing, Isolated Congenital AR 119900
Dihydrolipoamide dehydrogenase deficiency AR 246900
Dihydropteridine Reductase Deficiency AR 261630
Dihydropyrimidinase Deficiency AR 222748
Dihydropyrimidine Dehydrogenase Deficiency AR 274270
Dilated Cardiomyopathy 1X AR 611615
Dimethylglycine Dehydrogenase Deficiency AR 605850
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency 613571
Distal Hereditary Motor Neuronopathy Type 5 AD 600794
Dominant Hereditary Optic Atrophy AD 165500
DOOR syndrome AR 220500
Dopamine Beta Hydroxylase Deficiency AR 223360
Dowling-Degos disease 2 AD 615327
Dowling-Degos disease 4 AD 615696
Dubin-Johnson Syndrome AR 237500
Dyggve-Melchior-Clausen Syndrome AR 223800
Dyschromatosis universalis hereditaria 3 AD 615402
Dyserythropoietic Anemia, Congenital, Type II AR 224100
Dyskeratosis Congenita Autosomal Recessive AR 224230
Dyskeratosis Congenita X-Linked XL 305000
Dyskeratosis Congenita, Autosomal Recessive 6 AR 616353
Dyskeratosis Congenita, Autosomal Recessive, 2 AR 613987
Dystonia 1 AD 128100
Dystonia 32 AR 619637
Dystonia 5, Dopa-Responsive Type AR 128230
Dystonia 9 AD 601042
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities AR 617282
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies AR 130070
Ehlers-Danlos Syndrome, Musculocontractural Type AR 601776
Ehlers-Danlos Syndrome, Musculocontractural Type 2 AR 615539
Ehlers-Danlos Syndrome, Progeroid Type, 2 AR 615349
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 AR 617086
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 AD 617900
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To AR 614212
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AR 614388
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities AR 617668
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity AR 617669
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy AR 617186
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 AR 618321
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis AR 618331
Encephalopathy, progressive, with or without lipodystrophy AR 615924
Enlarged Vestibular Aqueduct Syndrome AR 600791
Epidermal Nevus 162900
Epilepsy, Childhood Absence 2 AD 607681
Epilepsy, Childhood Absence 5 612269
Epilepsy, Early-Onset, Vitamin B6-Dependent AR 617290
Epilepsy, focal, with speech disorder and with or without mental retardation AD 245570
Epilepsy, Hearing Loss, and Mental Retardation Syndrome AR 616577
Epilepsy, Idiopathic Generalized 10 AD 613060
Epilepsy, Idiopathic Generalized 8 612899
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 AD 614847
Epilepsy, Juvenile Myoclonic 5 611136
Epilepsy, Progressive Myoclonic 3 AR 611726
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure AR 254900
Epilepsy, Progressive Myoclonic 6 AR 614018
Epilepsy, Progressive Myoclonic, 8 AR 616230
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp AR 608105
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders XL 300491
Epileptic Encephalopathy, Early Infantile, 12 AR 613722
Epileptic Encephalopathy, Early Infantile, 15 AR 615006
Epileptic Encephalopathy, Early Infantile, 16 AR 615338
Epileptic Encephalopathy, Early Infantile, 19 AD 615744
Epileptic Encephalopathy, Early Infantile, 25 AR 615905
Epileptic Encephalopathy, Early Infantile, 27 AD 616139
Epileptic Encephalopathy, Early Infantile, 29 AR 616339
Epileptic Encephalopathy, Early Infantile, 3 AR 609304
Epileptic Encephalopathy, Early Infantile, 31 AD 616346
Epileptic Encephalopathy, Early Infantile, 35 AR 616647
Epileptic Encephalopathy, Early Infantile, 36 XL 300884
Epileptic Encephalopathy, Early Infantile, 39 AR 612949
Epileptic Encephalopathy, Early Infantile, 40 AR 617065
Epileptic Encephalopathy, Early Infantile, 41 AD 617105
Epileptic Encephalopathy, Early Infantile, 43 AD 617113
Epileptic Encephalopathy, Early Infantile, 45 AD 617153
Epileptic Encephalopathy, Early Infantile, 46 AD 617162
Epileptic Encephalopathy, Early Infantile, 48 AR 617276
Epileptic Encephalopathy, Early Infantile, 50 AR 616457
Epileptic Encephalopathy, Early Infantile, 51 AR 617339
Epileptic Encephalopathy, Early Infantile, 53 AR 617389
Epileptic Encephalopathy, Early Infantile, 55 AR 617599
Epileptic Encephalopathy, Early Infantile, 59 AD 617904
Epileptic encephalopathy, early infantile, 68 AR 618201
Epileptic encephalopathy, early infantile, 71 AR 618328
Epileptic encephalopathy, early infantile, 74 AD 618396
Epileptic encephalopathy, early infantile, 75 AR 618437
Epileptic encephalopathy, early infantile, 77 AR 618548
Epileptic encephalopathy, early infantile, 80 AR 618580
Epileptic encephalopathy, early infantile, 82 AR 618721
Epileptic encephalopathy, early infantile, 83 AR 618744
Epileptic Encephalopathy, Infantile or Early Childhood, 2 AD 617829
Epileptic Encephalopathy, Infantile or Early Childhood, 3 AD 618012
Epiphyseal dysplasia, multiple, 7 AR 617719
Episodic Ataxia, Type 6 AD 612656
Episodic Kinesigenic Dyskinesia 1 AD 128200
Erythrocyte Amp Deaminase Deficiency AR 612874
Erythrocyte Lactate Transporter Defect AD 245340
Erythrokeratodermia variabilis et progressiva 4 AR 617526
Erythropoietic Protoporphyria AR 177000
Essential Pentosuria AR 260800
Estrogen resistance AR 615363
Ethylmalonic Encephalopathy AR 602473
Even-plus syndrome AR 616854
Exercise intolerance, riboflavin-responsive AR 616839
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis AR 612714
Exostoses, Multiple, Type I AD 133700
Exostoses, Multiple, Type II AD 133701
Extraoral halitosis due to MTO deficiency AR 618148
Fabry's Disease XL 301500
Factor V And Factor VIII, Combined Deficiency Of, 1 AR 227300
Factor V And Factor VIII, Combined Deficiency Of, 2 613625
Familial Benign Hypercalcemia AD 145980
Familial Cancer Of Breast 114480
Familial cold autoinflammatory syndrome 3 AD 614468
Familial Colorectal Cancer 114500
Familial Dysautonomia AR 223900
Familial Gynecomastia, Due To Increased Aromatase Activity AD 139300
Familial Hypercholesterolemia AR 143890
Familial Hypertriglyceridemia AD 145750
Familial Hypertrophic Cardiomyopathy 6 AD 600858
Familial Hypoalphalipoproteinemia 604091
Familial Hypobetalipoproteinemia AR 200100
Familial Infantile Myasthenia AR 254210
Familial Juvenile Hyperuricemic Nephropathy AD 162000
Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates AR 610542
Familial Porphyria Cutanea Tarda AR 176100
Familial Renal Glucosuria AR 233100
Familial Renal Hypouricemia AR 220150
Familial Type 5 Hyperlipoproteinemia AD 144650
Familial Visceral Amyloidosis, Ostertag Type AD 105200
Fanconi renotubular syndrome 1 AD 134600
Fanconi renotubular syndrome 3 AD 615605
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young AD 616026
Fanconi renotubular syndrome 5 AR 618913
Fanconi-Bickel Syndrome AR 227810
Farber's Lipogranulomatosis AR 228000
Fazio-Londe Disease AR 211500
Fish-Eye Disease AR 136120
Fleck Corneal Dystrophy AD 121850
Focal Cortical Dysplasia Of Taylor 607341
Folate Malabsorption, Hereditary AR 229050
Fontaine progeroid syndrome AD 612289
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis AR 609218
Freeman-Sheldon Syndrome AD 193700
Friedreich's Ataxia AR 229300
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD 615911
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 AD 616439
Frontotemporal Dementia, Ubiquitin-Positive AD 607485
Fructose-Biphosphatase Deficiency AR 229700
Fructosuria, Essential AR 229800
Fucosidosis AR 230000
Fukuyama Congenital Muscular Dystrophy AR 253800
Fumarase Deficiency AR 606812
Galactosemia AR 230400
Galactosemia IV AR 618881
Galactosialidosis AR 256540
Galactosylceramide Beta-Galactosidase Deficiency AR 245200
Gallbladder Disease 4 611465
Galloway-Mowat syndrome 10 AR 619609
Galloway-Mowat Syndrome 2, X-linked XL 301006
Galloway-Mowat Syndrome 3 AR 617729
Galloway-Mowat Syndrome 4 AR 617730
Galloway-Mowat Syndrome 5 AR 617731
Galloway-Mowat syndrome 6 AR 618347
Galloway-Mowat syndrome 9 AR 619603
Gamma Aminobutyric Acid Transaminase Deficiency AR 613163
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To AR 230450
Ganglioside Sialidase Deficiency AR 252650
Gangliosidosis GM1 Type 3 AR 230650
Gastrointestinal Stromal Tumors AD 606764
Gastrointestinal ulceration, recurrent, with dysfunctional platelets AR 618372
GATA-1-Related Thrombocytopenia With Dyserythropoiesis XL 300367
Gaucher Disease, Atypical, Due To Saposin C Deficiency 610539
Gaucher Disease, Perinatal Lethal AR 608013
Gaucher Disease, Type 1 AR 230800
Gaucher Disease, Type II AR 230900
Gaucher Disease, Type III AR 231000
Gaucher Disease, Type IIIc AR 231005
Generalized Epilepsy with Febrile Seizures Plus, Type 9 AD 616172
Geroderma Osteodysplasticum AR 231070
Ghosal Syndrome AR 231095
Gilbert Syndrome AR 143500
Gillessen-Kaesbach-Nishimura syndrome AR 263210
Glaucoma, Normal Tension, Susceptibility To 606657
Glioma Susceptibility 1 137800
Glioma Susceptibility 2 613028
Global developmental delay, progressive ataxia, and elevated glutamine AR 618412
Glucocorticoid Deficiency 2 AR 607398
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency AR 614736
Glucocorticoid deficiency 5 AR 617825
Glucocorticoid Resistance AD 615962
Glucocorticoid-Remediable Aldosteronism AD 103900
Glut1 Deficiency Syndrome 1 AR 606777
Glut1 Deficiency Syndrome 2 AD 612126
Glutamate Formiminotransferase Deficiency AR 229100
Glutamine Deficiency, Congenital AR 610015
Glutaric Aciduria III AR 231690
Glutaric Aciduria, Type 1 AR 231670
Glutaric Aciduria, Type 2 AR 231680
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To AR 231900
Gluthathione Synthetase Deficiency AR 266130
Glycerol Kinase Deficiency XL 307030
Glycine Encephalopathy AR 605899
Glycine encephalopathy with normal serum glycine AR 617301
Glycine N-Methyltransferase Deficiency AR 606664
Glycogen Storage Disease 0, Liver AR 240600
Glycogen Storage Disease 0, Muscle AR 611556
Glycogen Storage Disease Of Heart, Lethal Congenital AD 261740
Glycogen Storage Disease Type Ia AR 232200
Glycogen Storage Disease Type Ib AR 232220
Glycogen Storage Disease Type Ic AR 232240
Glycogen Storage Disease Type II AR 232300
Glycogen Storage Disease Type III AR 232400
Glycogen Storage Disease Type IV AR 232500
Glycogen Storage Disease Type IXa1 XL