AutismKB 2.0

Annotation Detail for CYB5D2


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Basic Information Top
Gene Symbol:CYB5D2 ( MGC32124 )
Gene Full Name: cytochrome b5 domain containing 2
Band: 17p13.2
Quick LinksEntrez ID:124936; OMIM: NA; Uniprot ID:NEUFC_HUMAN; ENSEMBL ID: ENSG00000167740; HGNC ID: 28471
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in decreased expression of CYB5D2 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8812371664
MESH:D002779 Cholestasis Cyclosporine 3.3219486331
MESH:D005234 Fatty Liver Cyclosporine 3.4819224547
MESH:D005355 Fibrosis Cyclosporine 4.0512639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 5.318708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.5115720958
MESH:D006973 Hypertension Cyclosporine 2.2510903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.8615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.618314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 3.2212371664
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 6.2016801185
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.8617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.8119348381 18481113
MESH:D011230 Precancerous Conditions Cyclosporine 3.7512371664
MESH:D011565 Psoriasis Cyclosporine 2.3616882103
MESH:D014605 Uveitis Cyclosporine 5.401336536
MESH:D014985 Xerophthalmia Cyclosporine 5.8617120751
No data
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  (e.g. CHD8)

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