AutismKB 2.0

Annotation Detail for CMA1


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Basic Information Top
Gene Symbol:CMA1 ( CYH,MCT1,MGC119890,MGC119891,chymase )
Gene Full Name: chymase 1, mast cell
Band: 14q12
Quick LinksEntrez ID:1215; OMIM: 118938; Uniprot ID:CMA1_HUMAN; ENSEMBL ID: ENSG00000092009; HGNC ID: 2097
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04614Renin-angiotensin system
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1834Sarcoidosis
1904Diabetes mellitus
1949Fibrosarcoma
2074Asthma
2090Hamman-Rich syndrome
2220Dermatitis
2256Aortic aneurysm
Desease Name
Atherosclerosis
CARDIOVASCULAR
peptic ulcer stomach cancer
CANCER
Asthma
IMMUNE
ARDS mortality
METABOLIC
retinopathy, diabetic
diabetes, type 2
atopic dermatitis
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C014949 acetylhydrazine acetylhydrazine results in decreased expression of CMA1 mRNAdecreases expression 15282401
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CMA1 mRNAaffects expression 16483693
C424943 glutamyl-Se-methylselenocysteine glutamyl-Se-methylselenocysteine results in decreased expression of CMA1 mRNAdecreases expression 11306469
D006581 Hexachlorobenzene Hexachlorobenzene results in increased expression of CMA1 mRNAincreases expression 15159207
D010269 Paraquat Paraquat results in increased activity of CMA1 proteinincreases activity 15297733
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CMA1 mRNAdecreases expression 16120747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3114514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000382 Agricultural Workers' Diseases Paraquat 4.2211874814
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
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 glutamyl-Se-methylselenocysteine 2.2511306469
MESH:D001943 Breast Neoplasms Hexachlorobenzene 2.2512709520 15061365
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.2520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 16120746 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 8697196 16354765 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005911 Gliosis Paraquat 5.6811124998
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3112621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 16959395 16354765 18606429 8697196
MESH:D006973 Hypertension marker/mechanism 14620933
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D017379 Hypertrophy, Left Ventricular marker/mechanism 14620933
MESH:D007248 Infertility, Male Paraquat 3.454850670
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8116984957
MESH:D008114 Liver Neoplasms, Experimental Hexachlorobenzene 6.791423854
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.7912151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009410 Nerve Degeneration Paraquat 3.9616893418
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D010300 Parkinson Disease Paraquat 2.9115451049 11181820 16140633 15824117 16510128 11124998 11445065 12911755
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.8516190885
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D011014 Pneumonia Paraquat 4.9112504350
MESH:D017119 Porphyria Cutanea Tarda Hexachlorobenzene 12.419918132
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 12.4118163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511222880 11118676 11896295 11399792
MESH:D011658 Pulmonary Fibrosis marker/mechanism 15297733
MESH:D011658 Pulmonary Fibrosis Paraquat 3.0116324872 17997886
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.2611700416
MESH:D012135 Respiratory Sounds Paraquat 4.4711874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012162 Retinal Degeneration Paraquat 4.1016458197
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:04614 Renin-angiotensin system
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26623
    • No data
    Releated disease ID Related disease Name
    PA443803Cough
    Releated drug ID Related drug Name
    PA164712308Ace Inhibitors, Plain
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB03149 - Phenylalanylmethane
    DB03297 - Benzylsulfinic Acid
    DB03814 - 2-(N-Morpholino)-Ethanesulfonic Acid
    DB04016 - 2-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic Acid
    DB07680 - [(1S)-1-(5-CHLORO-1-BENZOTHIEN-3-YL)-2-(2-NAPHTHYLAMINO)-2-OXOETHYL]PHOSPHONIC ACID
    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


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