AutismKB 2.0

Annotation Detail for OFD1


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Basic Information Top
Gene Symbol:OFD1 ( 71-7A,CXorf5,JBTS10,MGC117039,MGC117040,SGBS2 )
Gene Full Name: oral-facial-digital syndrome 1
Band: Xp22.2
Quick LinksEntrez ID:8481; OMIM: 300170; Uniprot ID:OFD1_HUMAN; ENSEMBL ID: ENSG00000046651; HGNC ID: 2567
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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No data
Pathway IDPathway Name
Cell Cycle, Mitotic
No data
No data
Pathway IDPathway Name
500383Loss of proteins required for interphase microtubule organization from the centrosome
500384Loss of Nlp from mitotic centrosomes
Related Diseases/Disorders Top
No data
No data
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Desease Name
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome, type 2
Oral-facial-digital syndrome 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of OFD1 mRNAdecreases expression 18648102
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of OFD1 mRNAaffects binding|increases activity|increases expression 19710929
D012402 Rotenone Rotenone results in decreased expression of OFD1 mRNAdecreases expression 19013527
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.983712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.891440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.783581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.847296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.057505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.949022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.9419176532
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.4411298694 2524372 11906362 12868966 14531868 8156756 18759878 8970840
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.023621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.059653073 1440618 7440962 18289764 18692083 18648102 11289319 8291058 9022650 9328219 6482804 16192314 6679447
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005234 Fatty Liver pirinixic acid 3.2520131406 19236843
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.896705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.577505956
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.106705139
MESH:D006529 Hepatomegaly pirinixic acid 3.6419772884 18467677 19176532 16221962
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5915034207
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.898074119 9022650
OMIM:300804 JOUBERT SYNDROME 10 marker/mechanism
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.356582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.449327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9420007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.786587162 3712494 1399818 598648
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.613581430
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009410 Nerve Degeneration Rotenone 4.2218619942 15790535 17356569
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.186679447
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.876482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.893988306
MESH:D009958 Orofaciodigital Syndromes marker/mechanism
OMIM:311300 OTOPALATODIGITAL SYNDROME, TYPE I marker/mechanism 16783569
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.137296757
MESH:D010300 Parkinson Disease Rotenone 3.1015451049 16140633 11445065 18191903 19114014 19232380 11535288 18619942 16412576
MESH:D020734 Parkinsonian Disorders Rotenone 4.5215795934 15574749 15927086 18197244
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.346228378
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.703692021
OMIM:300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 marker/mechanism
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.226582329 6587162 3712494 7505956 1399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.418074119
Pathway ID Pathway Name
REACT:152 Cell Cycle, Mitotic
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31909
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank 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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