PCDH15, protocadherin related 15, 65217

N. diseases: 94; N. variants: 122
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853002
rs137853002
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
dbSNP: rs137853003
rs137853003
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
dbSNP: rs137853002
rs137853002
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation BEFREE Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). 19107147 2009
dbSNP: rs137853003
rs137853003
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation BEFREE Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). 19107147 2009
dbSNP: rs137853002
rs137853002
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation UNIPROT Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 18719945 2008
dbSNP: rs137853003
rs137853003
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation UNIPROT Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 18719945 2008
dbSNP: rs137853002
rs137853002
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation UNIPROT PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 14570705 2003
dbSNP: rs137853003
rs137853003
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.810 GeneticVariation UNIPROT PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 14570705 2003
dbSNP: rs137853002
rs137853002
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		T 0.810 CausalMutation CLINVAR
dbSNP: rs137853003
rs137853003
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		C 0.810 CausalMutation CLINVAR
dbSNP: rs16906916
rs16906916
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASCAT Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. 22491018 2013
dbSNP: rs16906916
rs16906916
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASDB Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. 22491018 2013
dbSNP: rs267606932
rs267606932
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		0.710 GeneticVariation BEFREE Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). 19107147 2009
dbSNP: rs111033260
rs111033260
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1568247
Disease:
Usher Syndrome, Type I 		0.710 GeneticVariation BEFREE In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003). 15028842 2004
dbSNP: rs111033260
rs111033260
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1568247
Disease:
Usher Syndrome, Type I 		A 0.710 CausalMutation CLINVAR A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 12711741 2003
dbSNP: rs267606932
rs267606932
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1836027
Disease:
Deafness, Autosomal Recessive 23 		T 0.710 CausalMutation CLINVAR
dbSNP: rs11004733
rs11004733
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0005586
Disease:
Bipolar Disorder 		C 0.700 GeneticVariation GWASCAT GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. 31164008 2019
dbSNP: rs11004733
rs11004733
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1269683
Disease:
Major Depressive Disorder 		C 0.700 GeneticVariation GWASCAT GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. 31164008 2019
dbSNP: rs11004733
rs11004733
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0038663
Disease:
Suicide attempt 		C 0.700 GeneticVariation GWASCAT GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. 31164008 2019
dbSNP: rs11004733
rs11004733
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0036341
Disease:
Schizophrenia 		C 0.700 GeneticVariation GWASCAT GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. 31164008 2019
dbSNP: rs72794963
rs72794963
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs962472
rs962472
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0037369
Disease:
Smoking 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
dbSNP: rs4935555
rs4935555
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs4935555
rs4935555
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1057517251
rs1057517251
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1865885
Disease:
Usher Syndrome, Type IF 		C 0.700 GeneticVariation CLINVAR The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. 27743452 2017