AutismKB 2.0

Annotation Detail for PLEKHA7


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Basic Information Top
Gene Symbol:PLEKHA7 ( DKFZp686M22243 )
Gene Full Name: pleckstrin homology domain containing, family A member 7
Band: 11p15
Quick LinksEntrez ID:144100; OMIM: 612686; Uniprot ID:PKHA7_HUMAN; ENSEMBL ID: ENSG00000166689; HGNC ID: 27049
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200155Stabilization and expansion of the E-cadherin adherens junction
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Related Diseases/Disorders Top
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Desease Name
Diastolic blood pressure
CARDIOVASCULAR
systolic blood pressure
Desease Name
Diastolic blood pressure
Systolic blood pressure
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of PLEKHA7 mRNAincreases expression 18648102
D006710 Homocysteine Homocysteine results in decreased expression of PLEKHA7 mRNAdecreases expression 17326132
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PLEKHA7 mRNAdecreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of PLEKHA7 mRNAdecreases expression 20106945
D002117 Calcitriol Calcitriol results in increased expression of PLEKHA7 mRNAincreases expression 16002434
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PLEKHA7 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420464547 20127859
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.153712494
MESH:D000236 Adenoma Benzo(a)pyrene 7.156695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001321 Autistic Disorder Homocysteine 3.0220468076 16297937
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.5411289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8517474063 20146248
MESH:D001943 Breast Neoplasms Calcitriol 1.8511237771
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.777296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9420419170
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 4.9411237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.277505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.659022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.6519486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.218697196 16354765 15668235 12621046 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D003324 Coronary Artery Disease Homocysteine 3.8416379339
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2112868966 8970840 14531868 11906362 18759878 11298694 8156756 2524372
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.842952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.947440962 18289764 9653073 9328219 9022650 1440618 6679447 8291058 18692083 16192314 6482804 11289319 18648102
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3115138306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.583581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5816530937
MESH:D017889 Exfoliation Syndrome Homocysteine 6.1616504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Cyclosporine 3.1819224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D005355 Fibrosis Cyclosporine 9.9112639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.9120067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D005901 Glaucoma Homocysteine 5.6416504073
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 12.0920471113
MESH:D006330 Heart Defects, Congenital Homocysteine 12.0919638421
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 12.0911294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716354765 16959395 15340226 18606429 8697196
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.9918234410 17292331 17369066
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D006973 Hypertension Cyclosporine 5.2810903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2818670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.508314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.176582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1712371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.389327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.6621137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6616984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.34598648 1399818 6587162 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2520135361 20464547 6695378 18520028 17053015 18816296 20064080 18569708 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2519555203 11884234
MESH:D008591 Meningomyelocele Homocysteine 5.9516602021
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009203 Myocardial Infarction Homocysteine 3.8217412321
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3011141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5719348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.726482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010300 Parkinson Disease Homocysteine 3.6616275827
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11399792 11222880 11118676
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.2415572423
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2117292933
MESH:D011471 Prostatic Neoplasms Calcitriol 3.2116289102 15754350 18247401 16644109 12479363
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012559 Schizophrenia Homocysteine 3.1316641680
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.127505956 6587162 6582329 3712494 1399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.318074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.3117053015
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
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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