Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:7263
Name:MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3
Definition:
Alternative IDs:
ParentIDs:MESH:D003925
TreeNumbers:C14.907.320/612624 |C19.246.099.500/612624
Synonyms:END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO |MVCD3 |NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO
Slim Mappings:Cardiovascular disease|Endocrine system disease
Reference: MedGen: 612624
MeSH: 612624
OMIM: 612624;

Genes: ACE;
Phenotypes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_143821636ACEBenign;Pathogenic;risk factor4340RCV000019682; RCV000019679; RCV000019678; RCV000019680; RCV000019681; RCV000019683; RCV000019684; N; MedGen:C0027051,SNOMED CT:22298006; MedGen:C1862877; MedGen:C1862886; MedGen:C2675470,OMIM:612624176156589261565893NM_000789.3:c.2306-117_2306-116insAF118569.1:g.14094_14382GeneTests:10456,GeneTests:12922,GeneTests:13204,GeneTests:2457,GeneTests:3333,GeneTests:762,GeneTests:8123,OMIM Allelic Variant:106180.0001C2675470 612624 Microvascular complications of diabetes 3; C0027051 Myocardial infarction; C1862877 Severe acute respiratory syndrome, progression of; C1862886 Susceptibility to progression to renal failure in IgA nephropathy