Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 CausalMutation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation CLINVAR