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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

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Disease Browser
Parent Node: Diseases (C)
Parent Node: Familial ectopia lentis (C536184)
..Starting node ..ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Child Nodes:
Sister Nodes:
..ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3629

Name:

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

Definition:

Alternative IDs:

ParentIDs:

MESH:C536184

TreeNumbers:

C11.250.300/C536184/129600 |C11.510.598.373/C536184/129600 |C16.131.384.405/C536184/129600

Synonyms:

ECTOL1

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: 129600
MeSH: 129600
OMIM: 129600;

Genes: FBN1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001083	Ectopia lentis

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_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)	2200	FBN1	Pathogenic	137854464	RCV000017899;	N	MedGen:C1851286,OMIM:129600	15	48717680	48717680	NM_000138.4:c.7339G>A	NP_000129.3:p.Glu2447Lys	NC_000015.9:g.48717680C>T	OMIM Allelic Variant:134797.0015	C1851286 129600 Ectopia lentis, isolated, autosomal dominant
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys)	2200	FBN1	Pathogenic	397514558	RCV000032871; RCV000172857;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1851286,OMIM:129600	15	48782210	48782210	NM_000138.4:c.2920C>T	NP_000129.3:p.Arg974Cys	NC_000015.9:g.48782210G>A	OMIM Allelic Variant:134797.0063	C1851286 129600 Ectopia lentis, isolated, autosomal dominant; C0024796 154700 Marfan syndrome
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys)	2200	FBN1	Pathogenic	137854480	RCV000017924; RCV000017925; RCV000181681;	N	MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1851286,OMIM:129600; MedGen:CN221809	15	48829826	48829826	NM_000138.4:c.718C>T	NP_000129.3:p.Arg240Cys	NC_000015.9:g.48829826G>A	OMIM Allelic Variant:134797.0042	C1851286 129600 Ectopia lentis, isolated, autosomal dominant; C0024796 154700 Marfan syndrome; CN221809 not provided
NM_000428.2(LTBP2):c.1553G>T (p.Ser518Ile)	4053	LTBP2	Benign	137854857	RCV000114807;	N	MedGen:C1851286,OMIM:129600	14	75017900	75017900	NM_000428.2:c.1553G>T	NP_000419.1:p.Ser518Ile	NC_000014.8:g.75017900C>A	-	C1851286 129600 Ectopia lentis, isolated, autosomal dominant