Source: CLINVAR

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: 2737
Gene Symbol: GLI3
GLI3 		GLI family zinc finger 3 0.436 0.846 1.00
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		phenotype 0.100 None 0 1
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		phenotype 0.100 None 0 1
Entrez Id: 549
Gene Symbol: AUH
AUH 		AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		disease 0.750 definitive 1.000 2 2 1982 2017
Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19 		DnaJ heat shock protein family (Hsp40) member C19 0.663 0.577 6.1E-04
CUI: C1857776
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		disease 0.730 None 1.000 1 1 2006 2017
Entrez Id: 3158
Gene Symbol: HMGCS2
HMGCS2 		3-hydroxy-3-methylglutaryl-CoA synthase 2 0.666 0.577 4.3E-14
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		disease 0.710 definitive 1.000 5 8 1994 2016
Entrez Id: 3033
Gene Symbol: HADH
HADH 		hydroxyacyl-CoA dehydrogenase 0.650 0.538 6.6E-05
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		disease 0.700 definitive 1.000 0 1 2001 2016
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1 		methylcrotonoyl-CoA carboxylase 1 0.700 0.308 4.0E-12
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		disease 0.730 definitive 1.000 11 25 2001 2016
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		methylcrotonoyl-CoA carboxylase 2 0.674 0.423 4.5E-11
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		disease 0.700 None 1.000 14 12 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 16 22 1991 2020
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		disease 0.900 None 1.000 8 11 2001 2016
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 8 19 2015 2017
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1 		serine active site containing 1 0.686 0.385 3.9E-06
CUI: C3553597
Disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME 		disease 0.720 None 1.000 3 7 2006 2019
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C4540171
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 		disease 0.700 None 1.000 0 2 2017 2019
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1 		serine active site containing 1 0.686 0.385 3.9E-06
CUI: C3151952
Disease: 3-Methylglutaric aciduria
3-Methylglutaric aciduria 		phenotype 0.100 None 0 1
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		disease 0.610 None 1.000 2 6 2007 2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		disease 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		disease 0.100 None 0 1
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22 		mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		disease 0.100 None 1.000 1 1 2018 2018
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 0 2 2016 2017
Entrez Id: 50846
Gene Symbol: DHH
DHH 		desert hedgehog signaling molecule 0.650 0.423 0.22
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		disease 0.700 strong 1.000 1 5 2004 2018
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		disease 0.700 strong 1.000 9 26 1990 2017
Entrez Id: 50846
Gene Symbol: DHH
DHH 		desert hedgehog signaling molecule 0.650 0.423 0.22
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		disease 0.700 strong 1.000 0 2 2000 2012
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 7 19 1999 2017
Entrez Id: 1761
Gene Symbol: DMRT1
DMRT1 		doublesex and mab-3 related transcription factor 1 0.559 0.654 0.74
CUI: C2752149
Disease: 46,XY Sex Reversal 4
46,XY Sex Reversal 4 		disease 0.100 None 0 1
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 0 6 2003 2010