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: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		disease 0.700 definitive 1.000 397 2632 1988 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		disease 0.700 definitive 1.000 451 2254 1976 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.900 strong 0.982 456 1279 1964 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease 0.800 strong 0.993 714 1160 1990 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.130 None 1.000 701 1021 1996 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 1.000 definitive 0.986 179 986 1973 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease 0.800 strong 0.986 800 874 1990 2020
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease 1.000 None 0.976 185 764 1977 2020
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 744 705 1975 2019
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 1.000 None 0.982 253 661 1953 2020
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 233 561 1989 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 1.000 None 0.979 532 560 1989 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease 0.800 strong 0.977 37 515 1975 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.900 None 0.977 199 497 1975 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 1.000 definitive 0.983 179 459 1993 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		phenotype 0.100 None 1.000 2 413 1992 1992
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 26 388 1980 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 155 361 1973 2019
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		disease 0.900 strong 1.000 49 344 1991 2017
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		disease 0.400 None 1.000 163 332 1991 2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.110 None 1.000 190 331 1994 2018
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		F-box protein 11 0.604 0.692 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 187 321 1994 2017
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		phenotype 0.100 None 0 318
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 1.000 definitive 0.977 132 316 1975 2020
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease 1.000 None 0.982 8 311 1978 2020