AutismKB 2.0

Annotation Detail for PHPT1


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Basic Information Top
Gene Symbol:PHPT1 ( CGI-202,DKFZp564M173,HSPC141,PHP14,RP11-216L13.10,bA216L13.10 )
Gene Full Name: phosphohistidine phosphatase 1
Band: 9q34.3
Quick LinksEntrez ID:29085; OMIM: 610167; Uniprot ID:PHP14_HUMAN; ENSEMBL ID: ENSG00000054148; HGNC ID: 30033
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00051Fructose and mannose metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PHPT1 mRNAaffects expression 17555576
D013629 Tamoxifen Tamoxifen affects the expression of PHPT1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PHPT1 mRNAdecreases expression 17884332
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.4114745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5911752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.8117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8914692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.1211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9115885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9217242785 18629630 20135344 19221464 21152245 20544844 16273361 18351453 19200415 21138602 18821012 17893378 19066611 18815881 18984771 19487384 19155303 15668708 19288272 16202921 16818667 19410462 11161223 19011961 19103187 19084267 18997820 19142967 20065188 17440819 19059307 17049068 20390343 15565566 20005174 19189210 19244106 19115204 17261762 18855134 19289846 19189212 16873071 20859285 18425577
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9220435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.1619066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8616924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0617572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818850075 16120746 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2017110522 16105132 11677210 17681005 15861022 16919318 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515340226 15668235 8697196 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003711 Demyelinating Diseases Tamoxifen 5.0219031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8919279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.9612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.9619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.3119155303 16202921 20544844 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.3415345470
MESH:D005234 Fatty Liver Tamoxifen 9.3414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.2714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.9219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9115340226 16354765 8697196 18606429 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.4616569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9912013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7617937319
MESH:D007249 Inflammation Tamoxifen 5.5519457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.5512200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007680 Kidney Neoplasms Tamoxifen 3.4318625569
MESH:D008064 Lipidoses Tamoxifen 3.4615342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3818564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3812878042
MESH:D008113 Liver Neoplasms Tamoxifen 4.8416684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3418625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3411884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.5019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8811731420 19196723 14580682 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 5.4119453300
MESH:D008545 Melanoma Tamoxifen 1.9212393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.9215990972
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6219410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.8719196722 19189210 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2211578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011537 Pruritus Ethinyl Estradiol 4.0515861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 14.6716709447
MESH:D013088 Spermatocele Tamoxifen 14.6716709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.7819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.1511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.498653321 16712894 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0215869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
KEGG:00051 Fructose and mannose metabolism
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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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