DisGeNET - a database of gene-disease associations

PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194

Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C2751544
Disease:	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

0.500

GeneticVariation

disease

UNIPROT

Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

9620294

1998

CUI:	C2751544
Disease:	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

0.500

GeneticVariation

disease

UNIPROT

Human homolog of patched, a candidate gene for the basal cell nevus syndrome.

8658145

1996

CUI:	C2751544
Disease:	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

0.500

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C2751544
Disease:	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

0.500

Biomarker

disease

GENOMICS_ENGLAND