AutismKB 2.0

Annotation Detail for SAMHD1


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Basic Information Top
Gene Symbol:SAMHD1 ( DCIP,HDDC1,MOP-5,SBBI88 )
Gene Full Name: SAM domain and HD domain 1
Band: 20q11.23
Quick LinksEntrez ID:25939; OMIM: 606754; Uniprot ID:SAMH1_HUMAN; ENSEMBL ID: ENSG00000101347; HGNC ID: 15925
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Other immune system disease
Immune system diseases
H00290Aicardi-Goutieres Syndrome
No data
No data
No data
Desease Name
Aicardi-Goutieres syndrome 5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SAMHD1 mRNAincreases expression 18648102
D016572 Cyclosporine Cyclosporine results in decreased expression of SAMHD1 mRNAdecreases expression 20106945
D004040 Dietary Carbohydrates Dietary Carbohydrates results in increased expression of SAMHD1 mRNAincreases expression 17490981
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SAMHD1 mRNAaffects expression 17555576
D005472 Fluorouracil Fluorouracil affects the expression of SAMHD1 mRNAaffects expression 16584549
C051890 irinotecan irinotecan analog affects the expression of SAMHD1 mRNAaffects expression 18927307
D013629 Tamoxifen Tamoxifen affects the expression of SAMHD1 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.5314692618
MESH:D000230 Adenocarcinoma Fluorouracil 4.5317638652
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.903712494
MESH:C535608 Aicardi-Goutieres syndrome 5 marker/mechanism 19525956
MESH:D000740 Anemia Fluorouracil 3.9817963324 16511603 15504547
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.461440618 11289319
MESH:D001943 Breast Neoplasms Fluorouracil 2.2215136595 16110121 19217205 16595493 18608205 18357371 16557594
MESH:D001943 Breast Neoplasms Tamoxifen 2.2216273361 15565566 16818667 15668708 17049068 20135344 18821012 17261762 18984771 18855134 20005174 19115204 19487384 20390343 17242785 19142967 19066611 19288272 19289846 21152245 19155303 17893378 16873071 19189212 19244106 11161223 19059307 16202921 18351453 18629630 18997820 19189210 17440819 19221464 18425577 19410462 20065188 18815881 19103187 19084267 20544844 21138602 19011961 20859285 19200415
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1116051944
MESH:D002277 Carcinoma Fluorouracil 3.7917121937
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.813581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 4.8117971768 16799960 17088986 18930000 17045692 16332177
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.8116924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 6.877296757
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 6.8718695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5516757204 18986760 17066447 16280240
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.187505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1812371664
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.5919486331 9022650
MESH:D002779 Cholestasis Cyclosporine 14.5919486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.5917110522 11677210 17333356 16105132 15861022 16919318 17681005
MESH:D003110 Colonic Neoplasms Fluorouracil 4.1017725105 17172411 18772588 17018589 16340194 17016597 16510598 17169374 17287894 15001691
MESH:D003110 Colonic Neoplasms irinotecan 4.1017725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.7817454858 16391804 16282729 18448328 18383874 20501625 16303861 17094418 15148649 17594712 17401013 16524972 14970324 17255274 15289873 18949393 18509181 17016601 16331619 18288408 18802399 17695437
MESH:D015179 Colorectal Neoplasms irinotecan 2.7817159606 16303861 16391804 17454858 18259882 18509181 15273666
MESH:D007644 Darier Disease Fluorouracil 5.1916733453
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.1511298694 2524372 8970840 12868966 18759878 14531868 8156756 11906362
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.793621924 2952479
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.0218289764 7440962 11289319 9653073 9022650 16192314 6482804 8291058 18692083 9328219 1440618 6679447 18648102
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2119155303 16202921 20544844 17893378
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.723581430
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.7216481741 16785472 17638652 16337965 15173087
MESH:D005234 Fatty Liver Cyclosporine 14.7519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.7515345470
MESH:D005234 Fatty Liver Tamoxifen 14.7514986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.466705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D005355 Fibrosis Cyclosporine 3.5012639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D005910 Glioma Fluorouracil 2.9616145905
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.347505956
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5618337622 15162350 15102660
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.846705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3015034207
MESH:D006973 Hypertension Cyclosporine 2.1810903974
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Tamoxifen 2.4819457130
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.468074119 9022650
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4810903974 18776723 8314463
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 19.786582329
MESH:D007680 Kidney Neoplasms Cyclosporine 19.7812371664
MESH:D007680 Kidney Neoplasms Fluorouracil 19.7816985049
MESH:D007680 Kidney Neoplasms Tamoxifen 19.7818625569
MESH:D008064 Lipidoses Tamoxifen 3.3515342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3515034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008113 Liver Neoplasms Fluorouracil 4.9715113037 16603448 18383874 17045692
MESH:D008113 Liver Neoplasms Tamoxifen 4.9716684651
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.69598648 6587162 1399818 3712494
MESH:D008175 Lung Neoplasms Fluorouracil 2.5915246190
MESH:D008175 Lung Neoplasms Tamoxifen 2.5918625569
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1915086387
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7914580682 19196722 11731420 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8416757204 18986760
MESH:D052016 Mucositis irinotecan 5.4017159606
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 10.093581430
MESH:D009362 Neoplasm Metastasis irinotecan 10.0918259882
MESH:D009362 Neoplasm Metastasis Tamoxifen 10.0919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009369 Neoplasms Fluorouracil 2.7216928823 18600527 18239605
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419189210 19196722 19200415
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.086679447
MESH:D009447 Neuroblastoma irinotecan 3.608761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.128761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6116436463
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.684026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.463988306
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7415113037 19003803 16929163 16500647
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.847296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.916228378
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2318626508 19082440
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2315067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2618286688 15538739 16160472 18722050
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.583692021
MESH:D013088 Spermatocele Ethinyl Estradiol 13.0916709447
MESH:D013088 Spermatocele Tamoxifen 13.0916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D013274 Stomach Neoplasms Fluorouracil 2.7717522103 17498489 16424979 18567086 15786421 17172411 19084572 16951190 19015929 18396642
MESH:D013274 Stomach Neoplasms irinotecan 2.7715723263
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.097505956 6582329 6587162 3712494 1399818
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2516280240
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.348074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.3416712894 17572228 8653321
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1416803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8215869587 14671159
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA34938
    • 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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