Disease browser and phenotype portal

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MSeqDR-LSDB
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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Diabetic Angiopathies (D003925)
..Starting node ..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (OMIM:612635)
Child Nodes:
Sister Nodes:
..Diabetic Foot (D017719)
..Diabetic Retinopathy (D003930) 1
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 (OMIM:603933)
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (OMIM:612623)
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (OMIM:612624)
..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)
..MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (OMIM:612635)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7267

Name:

MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7

Definition:

Alternative IDs:

ParentIDs:

MESH:D003925

TreeNumbers:

C14.907.320/612635 |C19.246.099.500/612635

Synonyms:

MVCD7 |NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO |NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO |PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO

Slim Mappings:

Cardiovascular disease|Endocrine system disease

Reference:

MedGen: 612635
MeSH: 612635
OMIM: 612635;

Genes: HFE;

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_000410.3(HFE):c.187C>G (p.His63Asp)	3077	HFE	Likely benign;Pathogenic;risk factor	1799945	RCV000000026; RCV000000027; RCV000175607; RCV000117220;	Y	MedGen:C0392514,OMIM:235200; MedGen:C2673520,OMIM:612635; MedGen:CN169374; MedGen:CN221809	6	26091179	26091179	NM_000410.3:c.187C>G	NP_000401.1:p.His63Asp	NC_000006.11:g.26091179C>G	OMIM Allelic Variant:613609.0002	C0392514 235200 Hemochromatosis type 1; C2673520 612635 Microvascular complications of diabetes 7; CN221809 not provided; CN169374 not specified
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)	3077	HFE	Benign;Pathogenic;association;risk factor	1800562	RCV000000019; RCV000000020; RCV000000021; RCV000000022; RCV000000023; RCV000000024; RCV000000025; RCV000178096; RCV000117222; RCV000210820;	Y	; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0392514,OMIM:235200; MedGen:C2673520,OMIM:612635; MedGen:C3150862; MedGen:C3280096,OMIM:614193; MedGen:CN169374; MedGen:CN221809	6	26093141	26093141	NM_000410.3:c.845G>A	NP_000401.1:p.Cys282Tyr	NC_000006.11:g.26093141G>A	OMIM Allelic Variant:613609.0001	C0392514 235200 Hemochromatosis type 1; C3150862 Hemochromatosis, juvenile, digenic; C0027672 Hereditary cancer-predisposing syndrome; C2673520 612635 Microvascular complications of diabetes 7; CN221809 not provided; CN169374 not specified; C3280096