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: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.640 1.000 3 1 2006 2018
Entrez Id: 6247
Gene Symbol: RS1
RS1 		retinoschisin 1 0.686 0.500 0.96
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease 0.810 limited 1.000 51 19 1997 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 1.000 limited 0.995 50 12 1997 2020
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.460 limited 1.000 30 3 1986 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease 1.000 limited 0.981 30 56 1975 2019
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 limited 0.896 17 62 1996 2020
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		disease 0.700 limited 1.000 16 6 2000 2016
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		disease 0.980 limited 1.000 13 9 1996 2020
Entrez Id: 10111
Gene Symbol: RAD50
RAD50 		RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		disease 0.700 limited 1.000 12 15 2003 2017
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		disease 0.700 limited 1.000 12 7 1996 2016
Entrez Id: 4179
Gene Symbol: CD46
CD46 		CD46 molecule 0.477 0.808 4.7E-07
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		disease 0.700 limited 1.000 11 1 2003 2019
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.800 limited 0.955 10 4 2009 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		disease 0.900 limited 1.000 7 5 1993 2011
Entrez Id: 10747
Gene Symbol: MASP2
MASP2 		mannan binding lectin serine peptidase 2 0.582 0.692 3.0E-14
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		disease 0.710 limited 0.875 6 1 2003 2020
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		disease 0.700 limited 1.000 6 3 2006 2017
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.770 limited 1.000 6 4 2007 2019
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.800 limited 1.000 6 5 2003 2018
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2 		potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 3B 		disease 0.740 limited 1.000 5 11 2006 2013
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		disease 0.800 limited 0.972 5 1 1999 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.700 limited 1.000 5 3 1998 2017
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 1.000 limited 1.000 5 3 1994 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		disease 0.800 limited 1.000 5 9 1988 2016
Entrez Id: 1355
Gene Symbol: COX15
COX15 		cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.740 limited 1.000 4 1 2002 2016
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2 		DnaJ heat shock protein family (Hsp40) member B2 0.743 0.192 5.4E-05
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		disease 0.700 limited 1.000 4 7 2012 2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.680 limited 1.000 4 2 2007 2019