DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Congenital Pain Insensitivity ×

Gene: CLTCL1 ×

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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8218
Gene Symbol:	CLTCL1

CLTCL1

CUI:	C0002768
Disease:	Congenital Pain Insensitivity

Congenital Pain Insensitivity

0.300

Biomarker

GENOMICS_ENGLAND

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.

26068709

2015

Entrez Id:	8218
Gene Symbol:	CLTCL1