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: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		disease 0.800 None 1.000 0 1 1993 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.700 None 0.963 0 11 1993 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease 0.700 None 0.947 0 1 1995 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group 0.640 None 1.000 0 12 1993 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		disease 0.640 strong 1.000 0 11 1996 2011
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		disease 0.500 moderate 0.938 0 10 1991 2018
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.500 None 0.948 0 3 1992 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		phenotype 0.490 None 1.000 0 1 1995 2017
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.400 None 0.976 0 1 1993 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.360 None 1.000 0 1 1994 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		disease 0.310 None 1.000 0 1 1998 2007
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C2673218
Disease: BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder) 		disease 0.100 None 0 2
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 6
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C2673229
Disease: ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA 		disease 0.100 None 0 1
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: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1707251
Disease: Cancer Other
Cancer Other 		disease 0.100 None 0 1
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C4017262
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO
FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0578477
Disease: Duodenal polyposis
Duodenal polyposis 		disease 0.100 None 0 2
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis 		phenotype 0.100 None 0 5
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		disease 0.100 None 1.000 0 4 2019 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		disease 0.100 None 0 1
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		disease 0.100 None 0 1
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C4023010
Disease: Hyperplastic colonic polyposis
Hyperplastic colonic polyposis 		disease 0.100 None 0 1
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group 0.100 None 0 1
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0236048
Disease: Polyposis, Gastric
Polyposis, Gastric 		disease 0.100 None 0 2