MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: hearing loss disorder (MONDO:0005365)
Parent Node: inherited auditory system disease (MONDO:0037940)
..Starting node ..noise induced hearing loss ()
Child Nodes:
Sister Nodes:
..age-related hearing impairment 1 ()
..age-related hearing impairment 2 ()
..benign paroxysmal positional nystagmus ()
..congenital corneal opacities, cornea guttata, and corectopia ()
..Meniere disease ()
..motion sickness ()
..noise induced hearing loss ()
..nonsyndromic genetic deafness ()
..OTSC1 ()
..OTSC10 ()
..OTSC2 ()
..OTSC3 ()
..OTSC4 ()
..OTSC5 ()
..OTSC7 ()
..OTSC8 ()
..syndromic genetic deafness ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

13098

Name:

noise induced hearing loss

Definition:

A condition in which a person loses the ability to hear due to exposure to high intensity sound.

Alternative IDs:

613035

ParentIDs:

TreeNumbers:

Synonyms:

hearing loss, noise-induced, susceptibility to; hearing loss, noise-induced, susceptibility to; NIHL; NIHL; noise-induced hearing loss

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 613035;
MSeqDR :
Genes:

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
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)	3753	KCNE1	Benign	1805127	RCV000035351\|RCV000119063\|RCV000171811\|RCV000241651\|RCV000312558\|RCV000352011\|RCV000398637\|RCV001094634;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013098,MedGen:C2751629,OMIM:613035\|MedGen:CN230736\|MONDO:MONDO:0012871,MedGen:C2676723,OMIM:612347, Orphanet:768, Orphanet:90647\|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500, Orphanet:101016, Orphanet:768\|MO	21	35821821	35821821			21:g.35821821T>C	ClinGen:CA131330,UniProtKB:P15382#VAR_001558	CN230736 Cardiovascular phenotype;

MSeqDR Portal