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: 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 10 0 1976 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2676677
Disease: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		phenotype 0.300 definitive 1.000 10 0 1994 2005
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2676678
Disease: OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		phenotype 0.300 definitive 1.000 10 0 1994 2005
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		disease 0.700 definitive 1.000 6 0 2013 2019
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP 		TRIO and F-actin binding protein 0.743 0.269 2.0E-28
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 definitive 1.000 8 0 2006 2016
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease 1.000 definitive 0.982 8 0 1990 2020
Entrez Id: 10111
Gene Symbol: RAD50
RAD50 		RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.340 limited 0.714 4 0 2003 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.640 definitive 1.000 10 0 1986 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease 0.800 definitive 0.978 10 0 1995 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.500 definitive 1.000 10 0 1994 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.800 definitive 0.979 10 0 1994 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		disease 0.560 definitive 1.000 10 0 1998 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease 0.700 definitive 0.973 10 0 1994 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.300 disputed 1.000 4 0 1995 2018
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 0.987 10 0 1993 2019
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1 		lipoxygenase homology domains 1 0.792 0.231 5.6E-26
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.310 definitive 1.000 3 0 2009 2016
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		FANCD2 and FANCI associated nuclease 1 0.610 0.577 1.7E-25
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 limited 1.000 4 0 2010 2016
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		FANCD2 and FANCI associated nuclease 1 0.610 0.577 1.7E-25
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.500 limited 1.000 4 0 2010 2016
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		FANCD2 and FANCI associated nuclease 1 0.610 0.577 1.7E-25
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.500 limited 1.000 4 0 2010 2016
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		FANCD2 and FANCI associated nuclease 1 0.610 0.577 1.7E-25
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 limited 1.000 4 0 2010 2016
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		FANCD2 and FANCI associated nuclease 1 0.610 0.577 1.7E-25
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 limited 1.000 4 0 2010 2016
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 10 0 1988 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675521
Disease: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype 0.300 definitive 1.000 10 0 1996 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675522
Disease: OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype 0.300 definitive 1.000 10 0 1996 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		disease 0.920 definitive 1.000 6 0 2002 2018