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: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.700 strong 0.990 191 230 1986 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		disease 0.800 strong 1.000 38 230 2002 2018
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		disease 0.100 None 1.000 38 229 2002 2018
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.100 None 1.000 15 229 2002 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.900 definitive 1.000 210 223 1991 2018
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease 1.000 definitive 0.980 256 222 1983 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.700 None 1.000 232 221 1976 2018
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 159 220 1996 2018
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 None 0.970 84 220 2006 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 139 215 1990 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		disease 0.800 None 0.992 96 210 1995 2019
Entrez Id: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease 0.800 strong 0.993 108 209 1970 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 1.000 None 0.978 113 204 1997 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.170 None 1.000 365 201 1989 2018
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		disease 0.610 None 1.000 9 201 2002 2019
Entrez Id: 2157
Gene Symbol: F8
F8 		coagulation factor VIII 0.542 0.769 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease 1.000 definitive 0.983 2 194 1977 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		disease 0.800 definitive 1.000 125 191 1972 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 298 189 1978 2018
Entrez Id: 686
Gene Symbol: BTD
BTD 		biotinidase 0.628 0.654 1.5E-07
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		disease 1.000 definitive 0.988 72 186 1993 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.160 None 1.000 148 183 1997 2018
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 23 179 1998 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		disease 1.000 None 0.976 89 176 1988 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		disease 1.000 definitive 0.981 23 174 2004 2020
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.500 None 1.000 147 172 1989 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.700 None 0.963 0 170 1991 2020