AutismKB 2.0

Annotation Detail for PLEKHA3


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Basic Information Top
Gene Symbol:PLEKHA3 ( FAPP1,FLJ20067 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3
Band: 2q31.2
Quick LinksEntrez ID:65977; OMIM: 607774; Uniprot ID:PKHA3_HUMAN; ENSEMBL ID: ENSG00000116095; HGNC ID: 14338
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
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PLEKHA3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PLEKHA3 mRNAaffects cotreatment|increases expression 17942748
D012402 Rotenone Rotenone results in increased expression of PLEKHA3 mRNAincreases expression 19013527
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PLEKHA3 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5915322242 14514962 11752688
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 Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 16120746 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2017110522 17681005 16919318 15861022 11677210 16105132 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.258697196 16354765 15668235 12621046 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.7712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
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 3.5416120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9115340226 16959395 16354765 18606429 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318670907 18850075
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 Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009410 Nerve Degeneration Rotenone 4.2218619942 15790535 17356569
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2211578682
MESH:D010300 Parkinson Disease Rotenone 3.1015451049 19232380 11535288 18191903 19114014 18619942 11445065 16412576 16140633
MESH:D020734 Parkinsonian Disorders Rotenone 4.5215927086 18197244 15574749 15795934
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11222880 11118676 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 4.0516919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.8116709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.1511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
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