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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: Usher Syndromes (D052245)
..Starting node ..Usher syndrome, type 1C (C536486)
Child Nodes:
Sister Nodes:
..Usher syndrome, type 1B (C536485)
..Usher syndrome, type 1C (C536486)
..Usher syndrome, type 1D (C536487)
..Usher syndrome, type 1E (C536488)
..Usher syndrome, type 1F (C536489)
..Usher syndrome, type 2A (C536490)
..Usher syndrome, type 2B (C536491)
..Usher syndrome, type 2C (C536492)
..Usher Syndrome, Type Ib (C564755)
..Usher Syndrome, Type IC (C564753)
..Usher Syndrome, Type ID (C563400)
..Usher Syndrome, Type ID/F (C567409)
..Usher Syndrome, Type IE (C566577)
..Usher Syndrome, Type IF (C566586)
..Usher Syndrome, Type IG (C564643)
..Usher Syndrome, Type IH (C567227)
..USHER SYNDROME, TYPE IID (OMIM:611383)
..USHER SYNDROME, TYPE IIIA (OMIM:276902)
..USHER SYNDROME, TYPE IJ (OMIM:614869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11445

Name:

Usher syndrome, type 1C

Definition:

Alternative IDs:

OMIM:276904

ParentIDs:

MESH:D052245

TreeNumbers:

C09.218.458.341.186.500.500/C536486 |C09.218.458.341.887.886/C536486 |C10.597.751.418.341.186.500.500/C536486 |C10.597.751.418.341.887.886/C536486 |C10.597.751.941.162.625.500/C536486 |C11.768.585.658.500.813/C536486 |C11.966.075.375.500/C536486 |C16.131.077.29

Synonyms:

USH1C |Usher syndrome, Acadian variety |USHER SYNDROME, TYPE I, ACADIAN VARIETY |USHER SYNDROME, TYPE IC

Slim Mappings:

Reference:

MedGen: C536486
MeSH: C536486
OMIM: 276904;

Genes: USH1C;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008527	Congenital sensorineural hearing impairment
3	HP:0000510	Rod-cone dystrophy
4	HP:0001756	Vestibular hypofunction

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_005709.3(USH1C):c.496+59_496+103[9]	10083	USH1C	Benign;Pathogenic	387906330	RCV000005449; RCV000218261;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848604,OMIM:276904	11	17548667	17548711	NM_005709.3:c.496+59_496+103[9]			OMIM Allelic Variant:605242.0003	C1568247 276900 Usher syndrome, type 1; C1848604 276904 Usher syndrome, type 1C
NM_005709.3(USH1C):c.388G>A (p.Val130Ile)	10083	USH1C	Benign;Uncertain significance	55843567	RCV000005456; RCV000041291;	N	MedGen:C1848604,OMIM:276904; MedGen:CN169374	11	17548878	17548878	NM_005709.3:c.388G>A	NP_005700.2:p.Val130Ile	NC_000011.9:g.17548878C>T	OMIM Allelic Variant:605242.0010	CN169374 not specified; C1848604 276904 Usher syndrome, type 1C
NM_005709.3(USH1C):c.308G>A (p.Arg103His)	10083	USH1C	Pathogenic	397514500	RCV000032622;	N	MedGen:C1848604,OMIM:276904	11	17552780	17552780	NM_005709.3:c.308G>A	NP_005700.2:p.Arg103His	NC_000011.9:g.17552780C>T	OMIM Allelic Variant:605242.0011	C1848604 276904 Usher syndrome, type 1C
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)	10083	USH1C	Pathogenic	397515359	RCV000005448; RCV000213574;	N	MedGen:C1568247,OMIM:276900; MedGen:C1848604,OMIM:276904	11	17552956	17552956	NM_005709.3:c.238dupC	NP_005700.2:p.Arg80Profs	NC_000011.9:g.17552956dupG	OMIM Allelic Variant:605242.0002	C1568247 276900 Usher syndrome, type 1; C1848604 276904 Usher syndrome, type 1C
NM_005709.3(USH1C):c.216G>A (p.Val72=)	10083	USH1C	Pathogenic	151045328	RCV000005450; RCV000220605;	Y	MedGen:C1568247,OMIM:276900; MedGen:C1848604,OMIM:276904	11	17552978	17552978	NM_005709.3:c.216G>A	NP_005700.2:p.Val72=	NC_000011.9:g.17552978C>T	OMIM Allelic Variant:605242.0004	C1568247 276900 Usher syndrome, type 1; C1848604 276904 Usher syndrome, type 1C
NM_005709.3(USH1C):c.91C>T (p.Arg31Ter)	10083	USH1C	Pathogenic	121908370	RCV000005453;	N	MedGen:C1848604,OMIM:276904	11	17554815	17554815	NM_005709.3:c.91C>T	NP_005700.2:p.Arg31Ter	NC_000011.9:g.17554815G>A	OMIM Allelic Variant:605242.0007	C1848604 276904 Usher syndrome, type 1C