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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: Diabetes Mellitus, Type 2 (D003924)
..Starting node ..MODY, Type 6 (C565231)
Child Nodes:
Sister Nodes:
..Diabetes Mellitus, Lipoatrophic (D003923) 1
..Diabetes Mellitus, Noninsulin-Dependent, 1 (C563359)
..Diabetes Mellitus, Noninsulin-Dependent, 2 (C563323)
..Diabetes Mellitus, Noninsulin-Dependent, 3 (C566342)
..Diabetes Mellitus, Noninsulin-Dependent, Type 4 (C564299)
..Diabetes Mellitus, Type II, Autosomal Dominant (C562773)
..Mason-Type Diabetes (C562772)
..Maturity-Onset Diabetes of the Young, Type 1 (C565101)
..Maturity-Onset Diabetes of the Young, Type 2 (C564219)
..Maturity-Onset Diabetes of the Young, Type 3 (C563933)
..Maturity-Onset Diabetes of the Young, Type 4 (C563451)
..Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (C565225)
..Maturity-Onset Diabetes Of The Young, Type 9 (C567393)
..MODY, Type 6 (C565231)
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Renal cysts and diabetes syndrome (C535520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7353

Name:

MODY, Type 6

Definition:

Alternative IDs:

OMIM:606394

ParentIDs:

MESH:D003924

TreeNumbers:

C18.452.394.750.149/C565231 |C19.246.300/C565231

Synonyms:

Maturity-Onset Diabetes of the Young, Type 6 |MODY6 |MODY, TYPE 6

Slim Mappings:

Endocrine system disease|Metabolic disease

Reference:

MedGen: C565231
MeSH: C565231
OMIM: 606394;

Genes: NEUROD1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004904	Maturity-onset diabetes of the young

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_002500.4(NEUROD1):c.616dupC (p.His206Profs)	4760	NEUROD1	Pathogenic	387906384	RCV000008304;	N	MedGen:C1853371,OMIM:606394	2	182542972	182542972	NM_002500.4:c.616dupC	NP_002491.2:p.His206Profs	NC_000002.11:g.182542972dupG	OMIM Allelic Variant:601724.0002	C1853371 606394 Maturity-onset diabetes of the young, type 6
NM_002500.4(NEUROD1):c.309C>G (p.Arg103=)	4760	NEUROD1	Pathogenic	149703259	RCV000202380;	N	MedGen:C1853371,OMIM:606394	2	182543279	182543279	NM_002500.4:c.309C>G	NP_002491.2:p.Arg103=	NC_000002.11:g.182543279G>C	-	C1853371 606394 Maturity-onset diabetes of the young, type 6