AutismKB 2.0

Annotation Detail for PITPNM3


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Basic Information Top
Gene Symbol:PITPNM3 ( CORD5,MGC157740,MGC157741,NIR1,RDGBA3 )
Gene Full Name: PITPNM family member 3
Band: 17p13.2-p13.1
Quick LinksEntrez ID:83394; OMIM: 608921; Uniprot ID:PITM3_HUMAN; ENSEMBL ID: ENSG00000091622; HGNC ID: 21043
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of PITPNM3 mRNAaffects expression 20382639
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0820889678
OMIM:600977 CONE-ROD DYSTROPHY 5 marker/mechanism
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1720426865
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018