PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: Muscle hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. 25131214 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. 25782667 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 20844286 2010