Source: ALL

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 Biomarker GENOMICS_ENGLAND Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation BEFREE Deletions or loss-of-function mutations of PTCH1 result in basal cell nevus syndrome (Gorlin syndrome), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7. 18830227

2009
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668

2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 Biomarker GENOMICS_ENGLAND Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 Biomarker GENOMICS_ENGLAND Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 8658145

1996
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

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 Biomarker CTD_human