Source: CTD_human

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: 1584
Gene Symbol: CYP11B1
CYP11B1 		cytochrome P450 family 11 subfamily B member 1 0.563 0.615 8.2E-07
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.400 None 1.000 0 0 1991 2019
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3 		hydroxysteroid 17-beta dehydrogenase 3 0.641 0.346 8.5E-07
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		disease 0.790 strong 1.000 1 0 1994 2018
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		retinoic acid induced 1 0.545 0.731 1.00
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		phenotype 0.300 None 1.000 12 0 2004 2010
Entrez Id: 1666
Gene Symbol: DECR1
DECR1 		2,4-dienoyl-CoA reductase 1 0.426 0.885 4.5E-14
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		disease 0.500 limited 1.000 1 0 2014 2015
Entrez Id: 133686
Gene Symbol: NADK2
NADK2 		NAD kinase 2, mitochondrial 0.691 0.346 6.5E-02
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		disease 0.600 moderate 1.000 0 0 2012 2018
Entrez Id: 353
Gene Symbol: APRT
APRT 		adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		disease 0.800 None 1.000 0 0 1985 2012
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 0 0 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 1 0 1999 2019
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		acyl-CoA dehydrogenase short/branched chain 0.691 0.500 2.7E-11
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		disease 0.700 definitive 1.000 0 0 2000 2016
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		fibroblast growth factor 8 0.507 0.769 0.68
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.310 None 1.000 1 0 2002 2002
Entrez Id: 3630
Gene Symbol: INS
INS 		insulin 0.445 0.923 0.30
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 0.300 None 1.000 1 0 2009 2009
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 1 0 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
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.780 None 1.000 1 0 1993 2015
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 0 0 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 0 0 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 0 0 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 0 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 0 0 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 0 0 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 2 0 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 0 0 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 0 0 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 0 0 2006 2019
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2 		HtrA serine peptidase 2 0.542 0.692 3.6E-03
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		disease 0.600 None 1.000 0 0 2005 2017
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22 		coiled-coil domain containing 22 0.595 0.692 1.00
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		disease 0.510 None 1.000 0 0 2015 2015