DisGeNET - a database of gene-disease associations

PHIP, pleckstrin homology domain interacting protein, 55023

N. diseases: 121; N. variants: 23

Disease: Generalized hypotonia ×

Variant: rs1562203136 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1562203136

rs1562203136

Entrez Id:	55023
Gene Symbol:	PHIP

PHIP

CUI:	C1858120
Disease:

Generalized hypotonia

CT

0.700

CausalMutation

CLINVAR