AutismKB 2.0

Annotation Detail for SAMD9


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Basic Information Top
Gene Symbol:SAMD9 ( C7orf5,DRIF1,FLJ20073,KIAA2004,NFTC,OEF1,OEF2 )
Gene Full Name: sterile alpha motif domain containing 9
Band: 7q21.2
Quick LinksEntrez ID:54809; OMIM: 610456; Uniprot ID:SAMD9_HUMAN; ENSEMBL ID: ENSG00000205413; HGNC ID: 1348
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Tumoral calcinosis, familial, normophosphatemic
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of SAMD9 proteinaffects expression 20106945
D003010 Clorgyline Clorgyline results in increased expression of SAMD9 mRNAincreases expression 19691856
D016572 Cyclosporine Cyclosporine results in decreased expression of SAMD9 mRNAdecreases expression 20106945
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of SAMD9 mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in increased expression of SAMD9 mRNAincreases expression 19619570
C051890 irinotecan irinotecan analog results in increased expression of SAMD9 mRNAincreases expression 18927307
D011374 Progesterone Progesterone results in increased expression of SAMD9 mRNAincreases expression 18070364
D011794 Quercetin Quercetin results in decreased expression of SAMD9 mRNAdecreases expression 19729006
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of SAMD9 mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SAMD9 mRNAincreases expression 19619570
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 11752688 14514962
MESH:D000230 Adenocarcinoma Estradiol 2.1411473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.4817084956
MESH:D001260 Ataxia Telangiectasia Quercetin 5.3115336622
MESH:D001327 Autoimmune Diseases Quercetin 4.7119761891
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.7117868700
MESH:D001930 Brain Injuries Progesterone 4.5615665606 15380490 15845082
MESH:D001943 Breast Neoplasms Estradiol 1.9918497071 17261762 19861407 14630087 12948864 16675129 17018787 17289903
MESH:D001943 Breast Neoplasms Progesterone 1.9916175315 15562024 17614352
MESH:D001943 Breast Neoplasms Quercetin 1.9918628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002105 Cadmium Poisoning Quercetin 5.9216962696
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8016111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.8312619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.8316924424
MESH:D006528 Carcinoma, Hepatocellular Quercetin 4.8312508355 19519916
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.2617234771
MESH:D006332 Cardiomegaly Quercetin 7.2019794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.2018670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1112371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.1118566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Cyclosporine 3.0919486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915340226 16354765 15668235 8697196 12621046
MESH:D003110 Colonic Neoplasms irinotecan 4.1617287894 17725105
MESH:D003110 Colonic Neoplasms Quercetin 4.1617148506 16640504 19440933 11134977 15741050 19056647 17191121
MESH:D015179 Colorectal Neoplasms irinotecan 2.8417454858 16391804 15273666 17159606 16303861 18509181 18259882
MESH:D015179 Colorectal Neoplasms Quercetin 2.8418095365 18852136
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.9319496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.6319279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.8017187935
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 18230668 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.0617692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.1311473722 18566989 19148513
MESH:D004715 Endometriosis Progesterone 9.7016134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.7010568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Cyclosporine 3.1019224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Cyclosporine 16.6412639820 12168785
MESH:D005355 Fibrosis Quercetin 16.6419474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.6420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D005909 Glioblastoma Quercetin 3.5419804834
MESH:D005910 Glioma Quercetin 3.1317643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2012621046 15340226 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.4115709030
MESH:D019584 Hot Flashes Estradiol 4.1317088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 18606429 15340226 16354765 16959395
MESH:D006943 Hyperglycemia Quercetin 4.2611834736 18262572
MESH:D006973 Hypertension Cyclosporine 9.0410903974
MESH:D006973 Hypertension Quercetin 9.0418356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 9.0418670907 18850075
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.7115869954
MESH:D007249 Inflammation Progesterone 5.3515869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3512878042 12200463
MESH:D007251 Influenza, Human Quercetin 4.8816624496
MESH:D007333 Insulin Resistance Estradiol 3.1116393666 16627594
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007627 Keloid Quercetin 5.2617086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Cyclosporine 10.848314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 10.8415618244
MESH:D007674 Kidney Diseases Quercetin 10.8416962696
MESH:D007680 Kidney Neoplasms Cyclosporine 7.9512371664
MESH:D007680 Kidney Neoplasms Estradiol 7.9515610895
MESH:D007938 Leukemia Quercetin 3.2617468513
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.6214716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 3.6212741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6212878042
MESH:D008113 Liver Neoplasms Aflatoxin B1 7.939163691 2125692 15890375 18177683
MESH:D008113 Liver Neoplasms Quercetin 7.9318980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9316984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.708603461
MESH:D008114 Liver Neoplasms, Experimental Quercetin 10.7019519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.7012151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.5714755239
MESH:D008175 Lung Neoplasms Quercetin 3.5716280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5711884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.5516891317 11408345 11807958 17203775
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.5517203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.8619453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D052016 Mucositis irinotecan 5.3517159606
MESH:D009203 Myocardial Infarction Quercetin 3.0719595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 9.1816810080
MESH:D015428 Myocardial Reperfusion Injury Quercetin 9.1819207477
MESH:D009362 Neoplasm Metastasis irinotecan 3.2518259882
MESH:D009369 Neoplasms Quercetin 2.8915185748
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5018481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 10.4211399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.4214600291
MESH:D009447 Neuroblastoma irinotecan 3.598761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.078761367
MESH:D020078 Neurogenic Inflammation Quercetin 4.6217929310
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.4819495926
MESH:D010051 Ovarian Neoplasms Estradiol 8.3219401270
MESH:D010051 Ovarian Neoplasms Progesterone 8.3216525653 17393432
MESH:D010051 Ovarian Neoplasms Quercetin 8.3219005980
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9216965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.8312371664
MESH:D011230 Precancerous Conditions Quercetin 9.8319056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311222880 11399792 11896295 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1320887781
MESH:D011471 Prostatic Neoplasms Clorgyline 2.7019691856
MESH:D011471 Prostatic Neoplasms Estradiol 2.7016740699
MESH:D011471 Prostatic Neoplasms Quercetin 2.7014715546 17292933
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9218045962
MESH:D012554 Schistosomiasis japonica Quercetin 5.9216862918
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013119 Spinal Cord Injuries Progesterone 4.6215862959 16503802
MESH:D013274 Stomach Neoplasms irinotecan 2.3615723263
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013978 Tibial Fractures Estradiol 5.0619048282
OMIM:610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL marker/mechanism
MESH:D001749 Urinary Bladder Neoplasms Quercetin 2.8816720314
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
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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