PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: HOLOPROSENCEPHALY 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 Biomarker disease GENOMICS_ENGLAND Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459 2016
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation disease 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
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation disease UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318 2006
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation disease UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668 2006
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation disease UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477 2002
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477 2002
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 Biomarker disease GENOMICS_ENGLAND Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 8658145 1996
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 CausalMutation disease CLINVAR
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 GeneticVariation disease CLINVAR
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		0.710 Biomarker disease CTD_human