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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Diabetic Angiopathies (D003925)
Parent Node: Diabetic Nephropathies (D003928)
..Starting node ..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (OMIM:612633)
Child Nodes:
Sister Nodes:
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 (OMIM:603933)
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (OMIM:612628)
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (OMIM:612633)
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (OMIM:612634)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7265

Name:

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5

Definition:

Alternative IDs:

ParentIDs:

MESH:D003925|MESH:D003928

TreeNumbers:

C12.777.419.192/612633 |C13.351.968.419.192/612633 |C14.907.320/612633 |C19.246.099.500/612633 |C19.246.099.875/612633

Synonyms:

MVCD5 |RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO

Slim Mappings:

Cardiovascular disease|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 612633
MeSH: 612633
OMIM: 612633;

Genes: PON1;

Phenotypes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000446.5(PON1):c.163T>A (p.Leu55Met)	5444	PON1	association;risk factor	854560	RCV000014742; RCV000133465; RCV000014743;	N	MedGen:C1827841,SNOMED CT:424017009; MedGen:C1840169; MedGen:C2674665,OMIM:612633	7	94946084	94946084	NM_000446.5:c.163T>A	NP_000437.3:p.Leu55Met	NC_000007.13:g.94946084A>T	OMIM Allelic Variant:168820.0002	C1840169 Coronary artery disease, susceptibility to; C1827841 Enzyme activity finding; C2674665 612633 Microvascular complications of diabetes 5