Evidence Detail for PCDH19

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Basic Information Top
Gene Symbol:PCDH19 ( DKFZp686P1843,EFMR,KIAA1313 )
Gene Full Name: protocadherin 19
Band: Xq13.3
Quick LinksEntrez ID:57526; OMIM: 300460; Uniprot ID:PCD19_HUMAN; ENSEMBL ID: ENSG00000165194
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 7 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMEpileptic encephalopathy, early infantile, 9 (300088)
DescriptionX-linked female-limited epilepsy and cognitive impairment; ASD/autistic features are common: 22% (6/27) and 38% (5/13) in two studies
Reference(s)19214208; 18469813; 19752159; 20830798; 20713952; 18234694;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 178 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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