AutismKB 2.0

Annotation Detail for SGCA


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Basic Information Top
Gene Symbol:SGCA ( 50-DAG,A2,ADL,DAG2,DMDA2,LGMD2D,SCARMD1,adhalin )
Gene Full Name: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Band: 17q21.33
Quick LinksEntrez ID:6442; OMIM: 600119; Uniprot ID:SGCA_HUMAN; ENSEMBL ID: ENSG00000108823; HGNC ID: 10805
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05416Viral myocarditis
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1817Respiratory failure
No data
No data
Desease Name
Muscular dystrophy, limb-girdle, type 2D
Adhalinopathy, primary
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SGCA mRNAincreases expression 18648102
D002330 Carmustine Carmustine results in decreased expression of SGCA mRNAdecreases expression 15980968
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 3.003712494
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 6.0911289319 1440618
MESH:D001932 Brain Neoplasms Carmustine 4.8916187019
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.783581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.867296757
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.087505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.519022650 19486331
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.5511906362 2524372 18759878 12868966 14531868 8156756 11298694 8970840
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.103621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.0618289764 8291058 9328219 7440962 1440618 9653073 16192314 18648102 6679447 18692083 11289319 9022650 6482804
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 6.096705139
MESH:D005909 Glioblastoma Carmustine 4.2216187019
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.647505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.196705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.7015034207
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 6.098074119 9022650
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.406582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4715034207 9327722
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.806587162 598648 1399818 3712494
MESH:D008545 Melanoma Carmustine 2.9112393984
OMIM:608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D marker/mechanism
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.623581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.216679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.924026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 6.093988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.247296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.546228378
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.743692021
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.266582329 6587162 7505956 3712494 1399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.428074119
Pathway ID Pathway Name
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
KEGG:05416 Viral myocarditis
Pharmacogenomics Knowledge Base Top
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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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