Source: UNIPROT

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.486 0.655 2.1E-04
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated
disease 0.460 1.000 18 18 1989 2015
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3 0.667 0.276 1.1E-06
17-Hydroxysteroid Dehydrogenase Deficiency
disease 0.750 1.000 6 14 1977 2016
Entrez Id: 353
Gene Symbol: APRT
APRT
adenine phosphoribosyltransferase 0.453 0.724 2.5E-11
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
disease 0.900 1.000 8 5 1985 2012
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
dehydrogenase E1 and transketolase domain containing 1 0.762 0.241 1.0E-30
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
disease 0.700 1 1 2013 2017
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10 0.645 0.483 0.90
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
disease 0.600 12 7 1999 2017
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
acyl-CoA dehydrogenase short/branched chain 0.752 0.241 3.6E-11
2-Methylbutyryl-CoA Dehydrogenase Deficiency
disease 0.700 2 1 2000 2007
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.594 0.448 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
disease 0.800 1.000 3 1 2003 2018
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.588 0.448 1.1E-07
3 beta-Hydroxysteroid dehydrogenase deficiency
disease 0.780 1.000 16 13 1979 2015
Entrez Id: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.727 0.207 7.8E-06
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
disease 0.740 1.000 1 1 1982 2014
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.701 0.310 9.3E-14
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
disease 0.700 3 5 1997 2016
Entrez Id: 3033
Gene Symbol: HADH
HADH
hydroxyacyl-CoA dehydrogenase 0.652 0.414 8.0E-05
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
disease 0.700 0 2 2008 2008
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
methylcrotonoyl-CoA carboxylase 1 0.743 0.276 4.8E-12
3-methylcrotonyl CoA carboxylase 1 deficiency
disease 0.720 1.000 11 22 2001 2017
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
methylcrotonoyl-CoA carboxylase 2 0.685 0.448 1.8E-10
3-methylcrotonyl CoA carboxylase 2 deficiency
disease 0.600 11 35 1982 2017
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
tafazzin 0.543 0.655 0.72
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
disease 0.800 0.957 3 4 1973 2017
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
ClpB homolog, mitochondrial AAA ATPase chaperonin 0.707 0.379 4.7E-04
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA
disease 0.700 1 11 1993 2016
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.672 0.379 2.2E-05
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
disease 0.700 3 1 2006 2018
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50
translocase of inner mitochondrial membrane 50 0.799 0.207 2.3E-03
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
disease 0.500 1 0 2017 2017
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2
HtrA serine peptidase 2 0.582 0.448 3.7E-03
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
disease 0.600 2 1 2017 2017
Entrez Id: 84733
Gene Symbol: CBX2
CBX2
chromobox 2 0.743 0.172 0.99
CUI: C2751317
Disease: 46, XY Sex Reversal 5
46, XY Sex Reversal 5
disease 0.600 1 2 2009 2009
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.512 0.586 0.99
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
disease 0.400 4 2 2017 2018
Entrez Id: 50846
Gene Symbol: DHH
DHH
desert hedgehog 0.611 0.414 0.25
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
disease 0.600 1 1 2004 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.500 0.655
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
disease 0.600 24 13 1990 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.512 0.586 0.99
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3
disease 0.500 8 8 1999 2018
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
mitogen-activated protein kinase kinase kinase 1 0.569 0.586 1.00
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
disease 0.600 1 2 1970 2017
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
zinc finger protein, FOG family member 2 0.582 0.552 1.00
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9
disease 0.600 1 3 2015 2015