AutismKB 2.0

Annotation Detail for DIAPH1


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Basic Information Top
Gene Symbol:DIAPH1 ( DFNA1,DIA1,DRF1,FLJ25265,LFHL1,hDIA1 )
Gene Full Name: diaphanous homolog 1 (Drosophila)
Band: 5q31.3
Quick LinksEntrez ID:1729; OMIM: 602121; Uniprot ID:DIAP1_HUMAN; ENSEMBL ID: ENSG00000131504; HGNC ID: 2876
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05131Shigellosis
hsa04810Regulation of actin cytoskeleton
hsa04510Focal adhesion
No data
Pathway IDPathway Name
200007RhoA signaling pathway
200155Stabilization and expansion of the E-cadherin adherens junction
Pathway IDPathway Name
P00016Cytoskeletal regulation by Rho GTPase
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Deafness, autosomal dominant 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006632 arsenic trioxide arsenic trioxide results in decreased expression of DIAPH1 mRNAdecreases expression 19128835
D011374 Progesterone Progesterone results in decreased expression of DIAPH1 mRNAdecreases expression 18037150
C017947 sodium arsenite sodium arsenite results in decreased expression of DIAPH1 mRNAdecreases expression 20308225
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3611798837 19825857
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.5715276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.7717306315 16712894
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.1516206674
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 6.2017868700
MESH:D001930 Brain Injuries Progesterone 4.9115665606 15380490 15845082
MESH:D001943 Breast Neoplasms Progesterone 2.4117614352 15562024 16175315
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.8611589617
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.2616217749 11135700 14691202 15553829 15073043
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 3.2615276417 17306315 16507464
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.7419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.5712490120
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4718572023
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.2819524636 20056578
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8720501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.7712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
OMIM:124900 DEAFNESS, AUTOSOMAL DOMINANT 1 marker/mechanism
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.6315213294
MESH:D003929 Diabetic Neuropathies Progesterone 5.1517187935
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.3617692515
MESH:D004715 Endometriosis Progesterone 4.2116134523
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3912903497
MESH:D005234 Fatty Liver arsenic trioxide 3.7715073043
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.8516904648
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.4216452187
MESH:D006689 Hodgkin Disease sodium arsenite 3.5612676792
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 5.0515869954
MESH:D007248 Infertility, Male sodium arsenite 3.2615346721 12646999
MESH:D007249 Inflammation Progesterone 2.7915869954
MESH:D007674 Kidney Diseases sodium arsenite 3.0220008137
MESH:D007938 Leukemia arsenic trioxide 3.0115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.2817077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 5.0516972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.7514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.2419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1917050201 20471514 16968895 19850784 16467208
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4815336539 11468182 16331271 17649720 12679006 16823087 15748426 19035177 19225113 12712474 16966277 16112521 12018890 17107899 16330433 17217047 11161223 16891316 17869043 9834237 15622746 19642359 19075265 15213294 17712046
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.9416882451
MESH:D008113 Liver Neoplasms arsenic trioxide 5.1314682389
MESH:D008113 Liver Neoplasms sodium arsenite 5.1316712894 15276417
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 2.9820377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.6915213294
MESH:D008171 Lung Diseases sodium arsenite 3.4519095001
MESH:D008175 Lung Neoplasms arsenic trioxide 2.6319825857 11798837
MESH:D008175 Lung Neoplasms sodium arsenite 2.6319931552 16712894 17077188 17306315 15276417
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.1217203775 11408345
MESH:D008545 Melanoma sodium arsenite 2.0719082730 16487513
MESH:D009101 Multiple Myeloma arsenic trioxide 3.4114977855 19549372 15949261 11468182 19417148
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.5418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.3616882451 16105982
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.5416624393
MESH:D009369 Neoplasms sodium arsenite 2.6811559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.3220056578
MESH:D009436 Neural Tube Defects arsenic trioxide 8.2410525206
MESH:D009436 Neural Tube Defects sodium arsenite 8.2412854658
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.5616624393 19769630 12452020
MESH:D010051 Ovarian Neoplasms Progesterone 8.5617393432 16525653
MESH:D010051 Ovarian Neoplasms sodium arsenite 8.5617306315 15276417
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6415580305
MESH:D010235 Paraganglioma arsenic trioxide 4.6919927285
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2119131511
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.2116039940
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9718045962
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.5416646077
MESH:D012878 Skin Neoplasms sodium arsenite 2.8719524636 18572023
MESH:D013119 Spinal Cord Injuries Progesterone 5.0216503802 15862959
MESH:D016135 Spinal Dysraphism sodium arsenite 4.1412854658
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.4319014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.7015213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.6312845720 20435036 11780464 12973940
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.6316712894 16452187 17306315 11723127
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.2111813266
MESH:D014652 Vascular Diseases sodium arsenite 5.1717056641
Pathway ID Pathway Name
KEGG:04510 Focal adhesion
KEGG:04810 Regulation of actin cytoskeleton
KEGG:05131 Shigellosis
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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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