Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		0.700 GermlineCausalMutation disease ORPHANET Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 17701898 2007
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		0.700 GeneticVariation disease UNIPROT Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 17701898 2007
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 17701898 2007
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		0.700 Biomarker disease CTD_human
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		0.700 CausalMutation disease CLINVAR