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: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		disease 0.100 None 1.000 99 39 1990 2018
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		disease 0.710 None 1.000 98 67 1982 2017
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		disease 0.800 None 1.000 96 164 1992 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: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.500 None 0.994 94 49 1996 2020
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 0.800 None 0.989 94 62 1982 2020
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		disease 1.000 None 1.000 94 256 1998 2017
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		disease 0.800 None 0.989 93 31 1990 2019
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.200 None 1.000 92 13 1992 2018
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: 2670
Gene Symbol: GFAP
GFAP 		glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		disease 1.000 None 0.972 87 89 1976 2020
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia 		disease 0.800 None 1.000 86 51 1992 2018
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		disease 0.800 None 0.977 86 46 1992 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 None 0.963 85 139 2001 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		disease 0.700 None 1.000 85 48 1997 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease 1.000 None 0.992 85 123 2001 2019
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		disease 0.700 None 1.000 84 122 1995 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: 410
Gene Symbol: ARSA
ARSA 		arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		disease 1.000 None 0.978 83 94 1975 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		disease 0.100 None 1.000 81 16 2002 2016
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		disease 0.700 None 1.000 76 48 1991 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.430 None 1.000 76 11 2001 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		disease 1.000 None 1.000 74 71 1987 2019
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		disease 1.000 None 0.992 74 139 1989 2019
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		alanine--glyoxylate and serine--pyruvate aminotransferase 0.593 0.731 1.2E-07
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		disease 0.800 None 1.000 73 164 1973 2019