Source: CLINGEN

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: 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 4 0 2012 2018
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 9 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 6 0 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 11 0 2001 2020
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 9 0 1982 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 8 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 6 0 2001 2016
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2 		methylcrotonoyl-CoA carboxylase 2 0.674 0.423 4.5E-11
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		disease 0.520 definitive 1.000 5 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 4 0 2001 2016
Entrez Id: 549
Gene Symbol: AUH
AUH 		AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C0342728
Disease: 3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 1 		disease 0.610 definitive 1.000 9 0 2002 2017
Entrez Id: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		disease 0.900 definitive 1.000 7 0 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 6 0 1994 2017
Entrez Id: 6229
Gene Symbol: RPS24
RPS24 		ribosomal protein S24 0.695 0.423 0.68
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		disease 0.300 definitive 1.000 6 0 2006 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 5 0 1994 2020
Entrez Id: 22926
Gene Symbol: ATF6
ATF6 		activating transcription factor 6 0.516 0.846 3.2E-07
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		disease 0.700 strong 1.000 2 0 2015 2015
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9 		acyl-CoA dehydrogenase family member 9 0.722 0.269 4.5E-08
CUI: C1970173
Disease: Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 		disease 0.610 definitive 1.000 9 0 2002 2016
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 1.000 definitive 0.977 5 0 1981 2020
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		disease 0.600 definitive 0.974 5 0 1984 2019
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		disease 0.940 definitive 1.000 11 0 1978 2018
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		disease 1.000 definitive 0.982 6 0 1955 2019
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2 		solute carrier family 16 member 2 0.592 0.577 0.99
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
Allan-Herndon-Dudley syndrome (AHDS) 		disease 1.000 definitive 1.000 8 0 2004 2020
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease 0.700 definitive 0.977 10 0 1990 2020
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		disease 1.000 definitive 1.000 5 0 1998 2020
Entrez Id: 6229
Gene Symbol: RPS24
RPS24 		ribosomal protein S24 0.695 0.423 0.68
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.690 definitive 1.000 6 0 2006 2017
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease 1.000 definitive 0.967 8 0 1997 2020