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: 3293
Gene Symbol: HSD17B3
HSD17B3
hydroxysteroid 17-beta dehydrogenase 3 0.641 0.346 8.5E-07
17-Hydroxysteroid Dehydrogenase Deficiency
disease 0.790 strong 1.000 6 14 1994 2018
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
disease 0.700 None 1.000 1 1 2012 2016
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10 0.656 0.538 0.94
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
phenotype 0.750 definitive 1.000 12 8 1999 2019
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
2-Methylbutyryl-CoA Dehydrogenase Deficiency
disease 0.700 definitive 1.000 2 1 2000 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
disease 1.000 definitive 1.000 3 1 2001 2020
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
3 beta-Hydroxysteroid dehydrogenase deficiency
disease 0.780 None 1.000 17 16 1993 2015
Entrez Id: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
disease 0.750 definitive 1.000 1 1 1982 2017
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.666 0.577 4.3E-14
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
disease 0.710 definitive 1.000 3 5 1994 2016
Entrez Id: 3033
Gene Symbol: HADH
HADH
hydroxyacyl-CoA dehydrogenase 0.650 0.538 6.6E-05
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
disease 0.700 definitive 1.000 0 2 2001 2016
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
methylcrotonoyl-CoA carboxylase 1 0.700 0.308 4.0E-12
3-methylcrotonyl CoA carboxylase 1 deficiency
disease 0.730 definitive 1.000 11 27 2001 2016
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
methylcrotonoyl-CoA carboxylase 2 0.674 0.423 4.5E-11
3-methylcrotonyl CoA carboxylase 2 deficiency
disease 0.700 None 1.000 11 45 2001 2016
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
tafazzin 0.477 0.808 0.73
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
disease 0.800 strong 0.979 4 4 1991 2020
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
caseinolytic mitochondrial matrix peptidase chaperone subunit B 0.631 0.654 5.0E-04
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
disease 0.700 None 1.000 2 6 2015 2017
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.686 0.385 3.9E-06
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
disease 0.720 None 1.000 3 2 2006 2019
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50
translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
disease 0.700 None 1.000 1 2 2017 2019
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2
HtrA serine peptidase 2 0.542 0.692 3.6E-03
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
disease 0.600 None 1.000 2 1 2005 2017
Entrez Id: 84733
Gene Symbol: CBX2
CBX2
chromobox 2 0.674 0.269 1.00
CUI: C2751317
Disease: 46, XY Sex Reversal 5
46, XY Sex Reversal 5
disease 0.600 limited 1.000 1 2 2009 2009
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
disease 0.400 None 1.000 4 2 2016 2017
Entrez Id: 50846
Gene Symbol: DHH
DHH
desert hedgehog signaling molecule 0.650 0.423 0.22
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
disease 0.700 strong 1.000 1 1 2004 2018
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
disease 0.700 strong 1.000 24 13 1990 2017
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3
disease 0.700 None 1.000 8 8 1999 2017
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
mitogen-activated protein kinase kinase kinase 1 0.538 0.731 1.00
CUI: C3151064
Disease: 46,XY SEX REVERSAL 6
46,XY SEX REVERSAL 6
disease 0.700 None 1.000 1 2 2003 2010
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9
disease 0.700 moderate 1.000 1 3 2014 2015
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
6-pyruvoyl-tetrahydropterin synthase deficiency
disease 0.900 definitive 1.000 12 20 1987 2017
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease 0.800 definitive 0.935 3 2 1994 2017