Gene: PTCH1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 GeneticVariation disease BEFREE The gain-of-function variants of the PTCH1 gene are responsible for a mild form of HPE. 30936464 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 GeneticVariation disease BEFREE PTCH1 mutations are also described in patients with holoprosencephaly. 29575684 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 Biomarker disease BEFREE Our findings argue that CDON must associate with both ligand and other hedgehog-receptor components, particularly PTCH1, for signaling to occur and that disruption of the latter interactions is a mechanism of HPE. 21802063 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 Biomarker disease BEFREE We propose that patients with microcephaly or holoprosencephaly of unknown origin should also be screened for PTCH1 duplication. 18830227 2009
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 Biomarker disease BEFREE Mutation analysis of the seven genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, and PTCH) known to be involved in holoprosencephaly was normal. 17103456 2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 AlteredExpression disease BEFREE We predict that by enhancing the repressive activity of PTCH on the SHH pathway, these mutations cause decreased SHH signaling, and HPE results. 11941477 2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.460 Biomarker disease HPO