AutismKB 2.0

Annotation Detail for HSD3B7


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Basic Information Top
Gene Symbol:HSD3B7 ( PFIC4,SDR11E3 )
Gene Full Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Band: 16p11.2
Quick LinksEntrez ID:80270; OMIM: 607764; Uniprot ID:3BHS7_HUMAN; ENSEMBL ID: ENSG00000099377; HGNC ID: 18324
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6061bile acid biosynthesis, neutral pathway
Pathway IDPathway Name
hsa00120Primary bile acid biosynthesis
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500829Synthesis of bile acids and bile salts via 24-hydroxycholesterol
500827Synthesis of bile acids and bile salts
500828Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
500830Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Related Diseases/Disorders Top
No data
No data
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Desease Name
Cholestasis, progressive familial intrahepatic 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane affects the expression of HSD3B7 mRNAaffects expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of HSD3B7 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of HSD3B7 mRNAaffects expression 16483693
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of HSD3B7 mRNAincreases expression 15003993
D016572 Cyclosporine Cyclosporine results in decreased expression of HSD3B7 mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of HSD3B7 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of HSD3B7 mRNAdecreases expression 18042831
C006253 pirinixic acid pirinixic acid results in decreased expression of HSD3B7 mRNAdecreases expression 18445702
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of HSD3B7 mRNAdecreases expression 16054898
D013752 Tetracycline Tetracycline results in increased expression of HSD3B7 mRNAincreases expression 16917069
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0815322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.843712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001161 Arteriosclerosis Dietary Fats 4.1015238619
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:C535442 Bile acid synthesis defect, congenital, 1 marker/mechanism
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.281440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.3519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Dietary Fats 1.9720435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.887296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.883084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.757296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.957505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9512371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.1219486331 9022650
MESH:D002779 Cholestasis Cyclosporine 14.1219486331
MESH:D002779 Cholestasis pirinixic acid 14.1219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1615668235 15340226 12621046 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0118759878 11906362 8156756 2524372 12868966 11298694 14531868 8970840
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.673621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.371440618 18289764 8291058 18692083 9653073 6482804 9328219 11289319 6679447 7440962 9022650 16192314 18648102
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.3716177239 11287661 16109766 15968718 19085960 14986274 16081117 18071297 12958197 19416960 12540782 16227642 14550746 11834606 12594235 11421492 18713872 17522070 16393943 16781746 17562736 14725611 11743745 11461765 10663392 10915739 11529661 12705907 19420014 19739265 11739529 17906064 15619225 2444490 12153990 16485898 10774834 19164858 19370779 12392966 19923254
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.3720420201
MESH:D056486 Drug-Induced Liver Injury Tetracycline 9.3717522070
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5718367378
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1716714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.143581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Cyclosporine 20.2819224547
MESH:D005234 Fatty Liver Dietary Fats 20.2817967931 19004024 19551842 18296743
MESH:D005234 Fatty Liver pirinixic acid 20.2819236843 20131406
MESH:D005234 Fatty Liver Tetracycline 20.2816917069 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.286705139
MESH:D005355 Fibrosis Cyclosporine 16.0312639820 12168785
MESH:D005355 Fibrosis Dietary Fats 16.0318296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.0320067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.227505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.716705139
MESH:D006529 Hepatomegaly pirinixic acid 8.9916221962 19176532 19772884 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.9915340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 18606429 16354765 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7621332399
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.8021332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1515034207
MESH:D006973 Hypertension Cyclosporine 5.1410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1418670907 18850075
MESH:D007249 Inflammation Dietary Fats 5.1920412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1912878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 7.6111836018 18457598
MESH:D007333 Insulin Resistance pirinixic acid 7.6116306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.288074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Acetaminophen 6.1012587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.1018776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.756582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.7512371664
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9618296743
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1812878042
MESH:D008107 Liver Diseases Acetaminophen 1.6612969438 16610002 19014921 11587558 19784758 16611625 19460945 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4017185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 4.4416377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.4416984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.07598648 3712494 1399818 6587162
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.533581430
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009395 Nephritis, Interstitial Tetracycline 5.059884423
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.026679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity Dietary Fats 4.5618457598 21332399 16723640 17217161 11836018 18674790 20518802 20132043 19632207
MESH:D009765 Obesity pirinixic acid 4.5620558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.584026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.283988306
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.707296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010391 Pemphigoid, Bullous Tetracycline 5.7011026799
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.736228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311399792 11118676 11896295 11222880
MESH:D017096 Prion Diseases Tetracycline 5.6510903871
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.503692021
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.838532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8316192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.011399818 6582329 6587162 3712494 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.338074119
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
MESH:D015430 Weight Gain Dietary Fats 3.8916723640
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:00120 Primary bile acid biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134940289
    • No data
    No data
    Releated drug ID Related drug Name
    PA449789glycine
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    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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