PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4551570
Disease:
2-3 toe syndactyly 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4023330
Disease:
Abnormal Descemet membrane morphology 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0035300
Disease:
Abnormal retinal morphology 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4025842
Disease:
Abnormal uvea morphology 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1859363
Disease:
Abnormality of dental eruption 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554691658
rs1554691658
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4023518
Disease:
Abnormality of skin adnexa morphology 		GGGTCCACAACATCT 0.700 GeneticVariation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4025871
Disease:
Abnormality of the face 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0029131
Disease:
Abnormality of the optic nerve 		T 0.700 CausalMutation CLINVAR
dbSNP: rs755103500
rs755103500
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0278876
Disease:
Adult Medulloblastoma 		0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801 2009
dbSNP: rs766905791
rs766905791
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0278876
Disease:
Adult Medulloblastoma 		0.010 GeneticVariation BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801 2009
dbSNP: rs111532669
rs111532669
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0201836
Disease:
Alanine aminotransferase measurement 		0.700 GeneticVariation GWASCAT Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers. 30589442 2019
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1847886
Disease:
Anomalous branches of internal carotid artery 		T 0.700 CausalMutation CLINVAR
dbSNP: rs147067171
rs147067171
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		C 0.700 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459 2016
dbSNP: rs765371196
rs765371196
Entrez Id: 5727;100507346
Gene Symbol: PTCH1;LOC100507346
PTCH1;LOC100507346
CUI: C4310809
Disease:
ANTERIOR SEGMENT DYSGENESIS 5 		C 0.700 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459 2016
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1862839
Disease:
Anterior segment mesenchymal dysgenesis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs75614054
rs75614054
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0003467
Disease:
Anxiety 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1853230
Disease:
Aphakia, congenital primary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4024589
Disease:
Aplasia/Hypoplasia of the mandible 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368869806
rs368869806
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C4022919
Disease:
Appendicular hypotonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C3838465
Disease:
BASAL CELL CARCINOMA, SOMATIC 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C2751544
Disease:
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. 9620294 1998
dbSNP: rs587776689
rs587776689
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C2751544
Disease:
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Human homolog of patched, a candidate gene for the basal cell nevus syndrome. 8658145 1996
dbSNP: rs863225055
rs863225055
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1862314
Disease:
Basal cell nevus 		C 0.700 CausalMutation CLINVAR
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. 11231326 2001