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: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gorlin syndrome. 21304560 2011
dbSNP: rs199476093
rs199476093
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease:
HOLOPROSENCEPHALY 7 		0.800 GeneticVariation UNIPROT PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668 2006
dbSNP: rs199476093
rs199476093
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease:
HOLOPROSENCEPHALY 7 		0.800 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318 2006
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. 15459969 2004
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs199476093
rs199476093
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease:
HOLOPROSENCEPHALY 7 		0.800 GeneticVariation UNIPROT Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477 2002
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
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 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: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943 1997
dbSNP: rs878853856
rs878853856
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969 1996
dbSNP: rs199476093
rs199476093
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1835820
Disease:
HOLOPROSENCEPHALY 7 		C 0.800 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: 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: rs111532669
rs111532669
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1883008
Disease:
Serum Alanine Aminotransferase Measurement 		0.700 GeneticVariation GWASCAT Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers. 30589442 2019
dbSNP: rs113154802
rs113154802
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs28446321
rs28446321
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0042834
Disease:
Vital capacity 		A 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs28457693
rs28457693
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs28701981
rs28701981
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs80155616
rs80155616
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1355619
rs1355619
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs28620532
rs28620532
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
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: rs10512248
rs10512248
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0008925
Disease:
Cleft Palate 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
dbSNP: rs10512248
rs10512248
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0008924
Disease:
Cleft upper lip 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017