DisGeNET - a database of gene-disease associations

BMPR1B, bone morphogenetic protein receptor type 1B, 658

N. diseases: 145; N. variants: 22

Disease: Brachydactyly type C ×

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:	C1862103
Disease:	Brachydactyly type C

Brachydactyly type C

0.410

GeneticVariation

disease

ORPHANET

Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype.

16957682

2006

CUI:	C1862103
Disease:	Brachydactyly type C

Brachydactyly type C

0.410

GeneticVariation

disease

BEFREE

Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype.

16957682

2006

CUI:	C1862103
Disease:	Brachydactyly type C

Brachydactyly type C

0.410

Biomarker

disease

HPO