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: 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: 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: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.992 7 0 1967 2020
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
myosin IXA 0.647 0.500 0.49
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.600 limited 1.000 4 0 1998 2016
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
VPS8 subunit of CORVET complex 1.000 0.077 5.1E-08
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.500 limited 1.000 3 0 1996 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 1.000 definitive 0.994 9 0 1960 2020
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
patched 2 0.563 0.692 3.4E-16
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 0.770 limited 1.000 5 0 1985 2017
Entrez Id: 2815
Gene Symbol: GP9
GP9
glycoprotein IX platelet 0.695 0.500 0.48
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
disease 0.800 definitive 0.981 15 0 1983 2019
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
disease 1.000 definitive 1.000 12 0 1988 2019
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease 1.000 definitive 0.994 5 0 1994 2020
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.480 definitive 0.970 19 0 1993 2018
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
tropomyosin 1 0.560 0.615 1.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 definitive 0.986 18 0 1993 2019
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2 0.582 0.654 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 definitive 1.000 15 0 1995 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
troponin I3, cardiac type 0.520 0.769 9.6E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.700 definitive 0.991 14 0 1988 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.800 definitive 0.988 13 0 1990 2019
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
troponin C1, slow skeletal and cardiac type 0.647 0.462 0.68
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 moderate 0.963 12 0 1997 2019
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.700 definitive 0.962 11 0 1999 2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
troponin T2, cardiac type 0.601 0.423 2.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.800 definitive 0.982 11 0 1991 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.500 limited 1.000 9 0 1996 2019
Entrez Id: 85366
Gene Symbol: MYLK2
MYLK2
myosin light chain kinase 2 0.705 0.269 0.23
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.300 limited 1.000 7 0 2000 2017
Entrez Id: 7071
Gene Symbol: KLF10
KLF10
Kruppel like factor 10 0.631 0.615 4.6E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.510 limited 1.000 6 0 1995 2017
Entrez Id: 4624
Gene Symbol: MYH6
MYH6
myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.660 limited 1.000 5 0 1984 2019
Entrez Id: 51778
Gene Symbol: MYOZ2
MYOZ2
myozenin 2 0.716 0.308 1.6E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.340 limited 1.000 4 0 2000 2017
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
alpha kinase 3 0.792 0.462 8.4E-25
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.400 strong 1.000 4 0 2001 2016
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.736 0.538 1.9E-164
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.320 limited 1.000 4 0 2001 2019