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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: Fibromatosis, Gingival (D005351)
..Starting node ..FIBROMATOSIS, GINGIVAL, 1 (OMIM:135300)
Child Nodes:
Sister Nodes:
..FIBROMATOSIS, GINGIVAL, 1 (OMIM:135300)
..Fibromatosis, Gingival, 2 (C565323)
..Fibromatosis, gingival, 3 (C537928)
..Fibromatosis, Gingival, 4 (C567028)
..Fibromatosis, Gingival, Type 1 (C562884)
..Fibromatosis, Gingival, with Distinctive Facies (C565567)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..Jones syndrome (C535886)
..Ramon Syndrome (C535285)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4280

Name:

FIBROMATOSIS, GINGIVAL, 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D005351

TreeNumbers:

C07.465.525.304/135300 |C07.465.714.258.428.200/135300 |C07.650.525.304/135300 |C16.131.850.525.304/135300

Synonyms:

FIBROMATOSIS, GINGIVAL, HEREDITARY |GGF1 |GINGF |GINGF1 |HGF

Slim Mappings:

Congenital abnormality|Mouth disease

Reference:

MedGen: 135300
MeSH: 135300
OMIM: 135300;

Genes: SOS1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000169	Gingival fibromatosis

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_005633.3(SOS1):c.3248dupC (p.Arg1084Lysfs)	6654	SOS1	Pathogenic	387906518	RCV000013728;	N	MedGen:CN030594,OMIM:135300	2	39222362	39222362	NM_005633.3:c.3248dupC	NP_005624.2:p.Arg1084Lysfs	NC_000002.11:g.39222362dupG	OMIM Allelic Variant:182530.0001	CN030594 135300 Gingival fibromatosis 1