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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: Hypertension (D006973)
..Starting node ..Hypertension, Diastolic, Resistance to (C563897)
Child Nodes:
Sister Nodes:
..Adams Nance syndrome (C538224)
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Brachydactyly with hypertension (C537095)
..Faye-Petersen Ward Carey syndrome (C537076)
..Hypertension Resistant to Conventional Therapy (C563514)
..Hypertension, Diastolic, Resistance to (C563897)
..Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy (C565359)
..Hypertension, Essential (C562386)
..Hypertension, Malignant (D006974)
..Hypertension, Pregnancy-Induced (D046110) 7
..Hypertension, Renal (D006977) 3
..Hypertensive Retinopathy (D058437)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Kallikrein hypertension (C537707)
..Masked Hypertension (D059468)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria (C566880)
..White Coat Hypertension (D059466)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5487

Name:

Hypertension, Diastolic, Resistance to

Definition:

Alternative IDs:

OMIM:608622

ParentIDs:

MESH:D006973

TreeNumbers:

C14.907.489/C563897

Synonyms:

Slim Mappings:

Cardiovascular disease

Reference:

MedGen: C563897
MeSH: C563897
OMIM: 608622;

Genes: KCNMB1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005117	Elevated diastolic blood pressure

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_004137.3(KCNMB1):c.193G>A (p.Glu65Lys)	-1	-	protective	11739136	RCV000006304;	N	MedGen:C1837739,OMIM:608622	5	169810796	169810796	NM_004137.3:c.193G>A	NP_004128.1:p.Glu65Lys	NC_000005.9:g.169810796C>T	OMIM Allelic Variant:603951.0001	C1837739 608622 Hypertension, diastolic, resistance to