DisGeNET - a database of gene-disease associations

SPLIT-HAND/FOOT MALFORMATION 4, C1854442

Variant: rs121908838 ×

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:

rs121908838

TP63

0.800

GeneticVariation

UNIPROT

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

11462173

2001

dbSNP:

rs121908838

TP63

0.800

GeneticVariation

UNIPROT

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

10839977

2000

dbSNP:

rs121908838

TP63

0.800

CausalMutation

CLINVAR