AutismKB 2.0

Annotation Detail for CAPN12


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Basic Information Top
Gene Symbol:CAPN12 ( MGC20576 )
Gene Full Name: calpain 12
Band: 19q13.2
Quick LinksEntrez ID:147968; OMIM: 608839; Uniprot ID:CAN12_HUMAN; ENSEMBL ID: ENSG00000182472; HGNC ID: 13249
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00029Huntington disease
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of CAPN12 mRNAincreases expression 18648102
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CAPN12 mRNAincreases expression 17557909
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 5.0117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.9014692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 3.003712494
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.2311256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9315885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 6.0911289319 1440618
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 9.099022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 9.0916105132 11677210 17681005 15861022 16919318 17333356 17110522
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.558970840 11906362 8156756 2524372 12868966 14531868 11298694 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.103621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.068291058 6482804 18289764 1440618 9022650 11289319 18692083 7440962 6679447 16192314 9653073 9328219 18648102
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.8612538720
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.3615345470
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 6.096705139
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:D007021 Hypospadias Ethinyl Estradiol 4.5716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 4.0712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7917937319
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 6.099022650 8074119
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 2.80598648 3712494 6587162 1399818
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 3.926482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 6.093988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2911578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.247296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.546228378
MESH:D011537 Pruritus Ethinyl Estradiol 4.2016919318 15861022
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.743692021
MESH:D013088 Spermatocele Ethinyl Estradiol 5.0116709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.2311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.6215669648
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.266582329 3712494 6587162 1399818 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.428074119
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.9714692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0914671159 15869587
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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