PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434397
rs121434397
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
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: rs121434397
rs121434397
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 23479190 2013
dbSNP: rs121434397
rs121434397
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gorlin syndrome. 21304560 2011
dbSNP: rs121434397
rs121434397
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		0.800 GeneticVariation UNIPROT A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 18285427 2008
dbSNP: rs121434397
rs121434397
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
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: rs121434397
rs121434397
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs7525308
rs7525308
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0040420
Disease:
Tonometry 		G 0.700 GeneticVariation GWASCAT Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population. 30591961 2019
dbSNP: rs56126236
rs56126236
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 GeneticVariation CLINVAR Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 23479190 2013
dbSNP: rs56126236
rs56126236
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease:
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs56126236
rs56126236
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0025149
Disease:
Medulloblastoma 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776628
rs587776628
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C3838465
Disease:
BASAL CELL CARCINOMA, SOMATIC 		A 0.700 CausalMutation CLINVAR