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: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 4
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 4
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 54838
Gene Symbol: WBP1L
WBP1L 		WW domain binding protein 1 like 0.769 0.462 0.64
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 5245
Gene Symbol: PHB
PHB 		prohibitin 0.511 0.846 0.76
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 3
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 3
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1 		cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 8