AutismKB 2.0

Annotation Detail for EXPH5


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Basic Information Top
Gene Symbol:EXPH5 ( DKFZp586F1223,DKFZp781H0795,KIAA0624,MGC133291,MGC134967,SLAC2-B,SLAC2B )
Gene Full Name: exophilin 5
Band: 11q22.3
Quick LinksEntrez ID:23086; OMIM: 612878; Uniprot ID:Q149M6_HUMAN; ENSEMBL ID: ENSG00000110723; HGNC ID: 30578
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
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of EXPH5 mRNAincreases expression 19933214
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of EXPH5 mRNAincreases expression 18648102
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 EXPH5 mRNAaffects expression 20382639
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of EXPH5 mRNAdecreases expression 20018196
D016572 Cyclosporine Cyclosporine results in increased expression of EXPH5 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EXPH5 mRNAincreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3811752688 15322242 14514962
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.777296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 12.537505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.5320889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.5312371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.759022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.7519486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2215340226 16354765 8697196 12621046 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2818759878 14531868 8156756 11906362 12868966 2524372 8970840 11298694
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.893621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.976482804 7440962 9022650 18692083 11289319 18289764 6679447 9653073 1440618 8291058 16192314 18648102 9328219
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.633581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6320426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005355 Fibrosis Cyclosporine 10.1412639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6615340226 16354765 8697196 16959395 18606429
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.638074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.528314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.306582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.409327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8216984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.423712494 1399818 598648 6587162
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.776482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311222880 11118676 11896295 11399792
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.156587162 6582329 7505956 1399818 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.398074119
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
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


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