AutismKB 2.0

Annotation Detail for CHM


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Basic Information Top
Gene Symbol:CHM ( DXS540,FLJ38564,GGTA,HSD-32,MGC102710,REP-1,TCD )
Gene Full Name: choroideremia (Rab escort protein 1)
Band: Xq21.2
Quick LinksEntrez ID:1121; OMIM: 300390; Uniprot ID:RAE1_HUMAN; ENSEMBL ID: ENSG00000188419; HGNC ID: 1940
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1808Eye disease
2120Rabies
2259Hereditary disease
Desease Name
pinealoma
No data
Desease Name
Choroideremia
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CHM mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of CHM proteinincreases expression 12629582
D003010 Clorgyline Clorgyline results in increased expression of CHM mRNAincreases expression 19691856
D005839 Gentamicins Gentamicins results in increased expression of CHM protein mutant formincreases expression 18809619
D010303 Paromomycin Paromomycin results in increased expression of CHM protein mutant formincreases expression 18809619
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D058186 Acute Kidney Injury Gentamicins 4.9111274264
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.2616097048 15673190 18705752 3786805 16192424 15700767 16050911 10355542 16124888 16227642 16011737 15721981
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 1.8618788625
MESH:D015794 Choroideremia marker/mechanism
MESH:D003457 Cryptosporidiosis Paromomycin 7.7016547730
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 2.1115027814 10915739 7179309 4309450 19336974 6623471 11566570 21278145 6884620 7120509 2869522 9327722 10092053 3732212 15968718 17522070 3786805 7440962 16177239 16227642 19085960 15998439
MESH:D004362 Drug Toxicity Gentamicins 4.7011033412 15033597
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.5419224547 12795759 61145 15959796 12631006 17595544 16045604 16239168
MESH:D005355 Fibrosis Carbon Tetrachloride 3.9418705752
MESH:D034381 Hearing Loss Gentamicins 5.2115968427 18024279 17868369 19130971
MESH:D006505 Hepatitis Carbon Tetrachloride 4.0319110552 19900420
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 5.0716899240
MESH:D053565 Hypercalciuria Gentamicins 6.2517652376
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.5715338365
MESH:D007673 Kidney Cortex Necrosis Gentamicins 6.3418842672
MESH:D007674 Kidney Diseases Gentamicins 4.0118289764 19349640 17934191
MESH:D007683 Kidney Tubular Necrosis, Acute Gentamicins 5.9911231351
MESH:D016773 Leishmaniasis, Cutaneous Gentamicins 10.6110219319
MESH:D016773 Leishmaniasis, Cutaneous Paromomycin 10.618889330 10219319 7570843
MESH:D007898 Leishmaniasis, Visceral Paromomycin 5.948394861 17035822
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9817157831 11408273 21278145 16943688 11903743 16221502 16239168 17334410 17174718
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7517721639 18210741 12741479 15673190 17761835 18277467 16192424 15730626 14716833 18472094 13678700 16015684 15876570 12546737 15996030 14716496 18187930 14748882 15959796 12898905 17525996 12632514 17714472 17557913 18418968 16136751 18420326 17708605 17766677 17869086 18205269 18472332 17900296 17481882 16011737 17805973 15818738 12666154 17976157 15338365 17631135 18412020 17640975 18395914 18429990 16248980 18376398 17823541 12958196 18705752 16033810 15650968 12445421 12389079 18279442 18166357 12586293 17944888 16027843 11481614 15362042 17565644 15123356 14620537 12609069 17922224 18395095 17698563 12667390 14724832 18263696 14512876 18339082 15370692 18251166 18481824 10355542 15057751 16097048 15925388 18156304 20821823 12632512 12649538 15931870 18317297 18006644 16638106 15893842 12445418 16116963 15052691 18054572
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1516246199 16964402 15720792 17285989 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.6515123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 4.0416899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 2.3219294768
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.8115583823 12014681
MESH:D009137 Muscular Dystrophy, Animal Gentamicins 6.8918694830
MESH:D011471 Prostatic Neoplasms Clorgyline 4.2319691856
MESH:D011507 Proteinuria Gentamicins 5.1215033597
MESH:D051437 Renal Insufficiency Gentamicins 5.4815728788 17132701
MESH:D012173 Retinitis Gentamicins 6.8918644591
MESH:D015837 Vestibular Diseases Gentamicins 5.9618776599
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB07752 - FARNESYL
No data
No data
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