Evidence Detail for POMT1

View Evidences View Annotations
Basic Information Top
Gene Symbol:POMT1 ( FLJ37239,LGMD2K,RT )
Gene Full Name: protein-O-mannosyltransferase 1
Band: 9q34.1
Quick LinksEntrez ID:10585; OMIM: 607423; Uniprot ID:POMT1_HUMAN; ENSEMBL ID: ENSG00000130714
Sequences Top
Show »

Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (609308)
DescriptionLimb-girdle muscular dystrophy with ID; Walker-Warburg syndrome
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000549 9 9q34.12-34.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0004103 9 9q34.13 gain 1 1 CNVs Only Present In Patients; Levy, 2011
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

  (e.g. NLGN4X)

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
  • Click to Download Data

Registered with NIF