AutismKB 2.0

Annotation Detail for DIAPH2


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Basic Information Top
Gene Symbol:DIAPH2 ( DIA,DIA2,DRF2,FLJ11167,POF,POF2 )
Gene Full Name: diaphanous homolog 2 (Drosophila)
Band: Xq21.33
Quick LinksEntrez ID:1730; OMIM: 300108; Uniprot ID:DIAP2_HUMAN; ENSEMBL ID: ENSG00000147202; HGNC ID: 2877
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04810Regulation of actin cytoskeleton
No data
No data
Pathway IDPathway Name
P00016Cytoskeletal regulation by Rho GTPase
No data
Related Diseases/Disorders Top
No data
No data
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No data
Desease Name
Premature ovarian failure
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of DIAPH2 proteinaffects expression 20106945
D001104 Arbutin Arbutin results in decreased expression of DIAPH2 mRNAdecreases expression 17103032
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of DIAPH2 mRNAdecreases expression 20106945
20064835
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 DIAPH2 mRNAaffects expression 20382639
C004648 testosterone enanthate testosterone enanthate affects the expression of DIAPH2 mRNAaffects expression 17440010
C024746 tobacco tar tobacco tar results in decreased expression of DIAPH2 mRNAdecreases expression 19559774
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0020146248 17474063
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 1.9812907637 21507988 12619106
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1220419170
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.7820889678
MESH:D002471 Cell Transformation, Neoplastic tobacco tar 7.7819559774
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5720426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5716530937
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8020471113
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.2717440010
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.8918177683 15890375 9163691 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.8920195826 21137059
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.928603461
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.4914755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.496695378 17053015 18569708 18520028 20135361 20869020 20464547 20064080 18816296
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3011141357
MESH:D016649 Primary Ovarian Insufficiency marker/mechanism
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4910029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
Pathway ID Pathway Name
KEGG:04810 Regulation of actin cytoskeleton
Pharmacogenomics Knowledge Base Top
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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


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