AutismKB 2.0

Annotation Detail for CA5A


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Basic Information Top
Gene Symbol:CA5A ( CA5,CAV,CAVA )
Gene Full Name: carbonic anhydrase VA, mitochondrial
Band: 16q24.2
Quick LinksEntrez ID:763; OMIM: 114761; Uniprot ID:CAH5A_HUMAN; ENSEMBL ID: ENSG00000174990; HGNC ID: 1377
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of CA5A mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of CA5A proteinaffects expression 20106945
D001959 Bromates Bromates results in decreased activity of CA5A proteindecreases activity 15664814
D002254 Carbonates Carbonates results in decreased activity of CA5A proteindecreases activity 15664814
C022842 chloric acid chloric acid results in decreased activity of CA5A proteindecreases activity 15664814
D004052 Diethylnitrosamine Diethylnitrosamine results in decreased expression of CA5A mRNAdecreases expression 19638242
D007452 Iodates Iodates results in decreased activity of CA5A proteindecreases activity 15664814
C044659 molybdate molybdate results in decreased activity of CA5A proteindecreases activity 15664814
D017942 Nitric Acid Nitric Acid results in decreased activity of CA5A proteindecreases activity 15664814
C494474 perchlorate perchlorate results in decreased activity of CA5A proteindecreases activity 15664814
C037192 potassium periodate potassium periodate results in decreased activity of CA5A proteindecreases activity 15664814
C025349 sodium metasilicate sodium metasilicate results in decreased activity of CA5A proteindecreases activity 15664814
C005741 sulfamic acid sulfamic acid results in decreased activity of CA5A proteindecreases activity 15664814
D014303 Trinitrotoluene Trinitrotoluene affects the expression of CA5A mRNAaffects expression 21346803
C045951 tungstate tungstate results in decreased activity of CA5A proteindecreases activity 15664814
D014638 Vanadates Vanadates results in decreased activity of CA5A proteindecreases activity 15664814
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 4.217525203
MESH:D000236 Adenoma Diethylnitrosamine 2.856695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 3.9219052882 19061943 16434500 17620307 17162532 18056438
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.2417474063
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.6016705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.6012619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.603581430 18506893 20007298 16569478 20101231 16935385 11831363 18210153 18785209 19919837 18971187 20214788 3084413 19701751 21159647 18788625 20432363 10672840 10737359 19208518 20935162 16878318 19383236 16288022 18494052 17173139 19394651 17055752 18393292 19171122 20084675 17138121 16779866 19539802 18691550 17978847 17428255 20512989 18056438 19418558 19822196 16328049 19519916 20727157 19052882 18665156 20524982 18978308 17162532 16698587 19335982 16830150 17761372 16502159 16681979 16540662 19107877 20514400 16807293
MESH:D002386 Cataract Trinitrotoluene 3.8714694615 15817613
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 2.8621159647 17174075 7505956 2727394
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.6919052882
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.4015095906
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.2718551238
MESH:D003490 Cyanosis Trinitrotoluene 11.2718551238
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.1920387270
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.3618551238 21346803
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.3619107877
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 6.3618551238 21346803
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.1516302075
MESH:D005234 Fatty Liver Diethylnitrosamine 3.1921071580 20387270
MESH:D006042 Goiter perchlorate 5.3118801409
MESH:D006529 Hepatomegaly Trinitrotoluene 4.2515817613
MESH:D007248 Infertility, Male Trinitrotoluene 3.6812150543
MESH:D007249 Inflammation Diethylnitrosamine 2.3818785209
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 2.9816705839
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8220032147 19638242 18407596 18522880 18665156
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1017034775
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.6418177683 2125692 15890375 9163691
MESH:D008113 Liver Neoplasms Diethylnitrosamine 4.6418648771 20583210 12112319 19850985 18977376 19255062 21278145 21071580 19426721 20434301 20101389 19996281 19499222 19294768 19638242 2862719 19254457 21167192 20137499 19551842 12771043 19642983 15175105 19256749 19690152 20118626 20501860 20492335 18754104 20405173 2422723 16942905 19833225 18644402 19812893 21047994 19427195 18978307 10737359 9163691 20452335 19073162 19090486 15885732
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.008603461
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.0019009564 19004024 16267830 17942915 19539802 18544905 17854601 18164116 18308698 3124819 19519916 18775883 16842330 19126423 18282651 18079962 2563599 18253720 9362446 17174075 18093689 21159647
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.4914755239
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.4920970405 6695378 21163286 20512841
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.7518551238
MESH:D009336 Necrosis Trinitrotoluene 10.7518551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.573581430 9029167
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.3420387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.1520387270
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.2312819281 16049721
MESH:D009784 Occupational Diseases Trinitrotoluene 9.2312819281 17852074 14694615
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4216540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.552563599
MESH:D012640 Seizures 2,4-dinitrotoluene 6.2018551238
MESH:D012640 Seizures Trinitrotoluene 6.2018551238
MESH:D013163 Splenomegaly Trinitrotoluene 5.2115817613
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7518456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 2.987505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.2916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.3310091137
Pathway ID Pathway Name
KEGG:00910 Nitrogen metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00909 antagonist Zonisamide Antioxidants;Anticonvulsants
DB01194 inhibitor Brinzolamide Carbonic Anhydrase Inhibitors;Antiglaucomic Agents;Ophthalmics
DB03385 - 4-Methylimidazole
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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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