DisGeNET - a database of gene-disease associations

Pitt-Hopkins-Like Syndrome 1, C2750246

Source: CURATED ×

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	26047
Gene Symbol:	CNTNAP2

CNTNAP2

0.900

GermlineCausalMutation

disease

ORPHANET

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

2006

Entrez Id:	26047
Gene Symbol:	CNTNAP2

CNTNAP2

0.900

Biomarker

disease

GENOMICS_ENGLAND

Possible case of Pitt-Hopkins syndrome in sibs.

2001

Entrez Id:	26047
Gene Symbol:	CNTNAP2

CNTNAP2

0.900

Biomarker

disease

CTD_human