Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908315
rs121908315
Entrez Id: 23396
Gene Symbol: PIP5K1C
PIP5K1C
CUI: C1969655
Disease:
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		0.800 GeneticVariation UNIPROT Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 17701898 2007
dbSNP: rs121908315
rs121908315
Entrez Id: 23396
Gene Symbol: PIP5K1C
PIP5K1C
CUI: C1969655
Disease:
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		T 0.800 CausalMutation CLINVAR