DisGeNET - a database of gene-disease associations

BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21

Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder) ×

Variant: rs121912765 ×

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:

rs121912765

Entrez Id:	652
Gene Symbol:	BMP4

BMP4

CUI:	C1864689
Disease:

MICROPHTHALMIA, SYNDROMIC 6 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

18252212

2008

dbSNP:

rs121912765

Entrez Id:	652
Gene Symbol:	BMP4

BMP4

CUI:	C1864689
Disease:

MICROPHTHALMIA, SYNDROMIC 6 (disorder)

0.800

CausalMutation

CLINVAR