DisGeNET - a database of gene-disease associations

BRACHYDACTYLY, TYPE B1, C1862112

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894121

ROR2

0.700

CausalMutation

CLINVAR

dbSNP:

rs104894122

ROR2

0.700

CausalMutation

CLINVAR

dbSNP:

rs121909082

ROR2

0.700

CausalMutation

CLINVAR

dbSNP:

rs863223289

ROR2

0.700

CausalMutation

CLINVAR

dbSNP:

rs863223290

ROR2

0.700

CausalMutation

CLINVAR

dbSNP:

rs863223292

ROR2

0.700

CausalMutation

CLINVAR

dbSNP:

rs199566527

NOG

0.010

GeneticVariation

BEFREE

We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral brachydactyly type B phenotype.

22529972

2012

dbSNP:

rs28937580

NOG

0.010

GeneticVariation

BEFREE

Interestingly, we found that the mutation P35S described in this family has already been reported in patients affected with SYM1 as well as with BDB syndromes.

18440889

2008