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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: Eye Diseases, Hereditary (D015785)
Parent Node: Retinal Degeneration (D012162)
Parent Node: Vision Disorders (D014786)
..Starting node ..Enhanced S-Cone Syndrome (C564835)
Child Nodes:
Sister Nodes:
..Alice in Wonderland Syndrome (D062026)
..Amblyopia (D000550) 2
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Blindness (D001766) 39
..Color Vision Defects (D003117) 11
..Creutzfeldt-Jakob Disease, Heidenhain Variant (C566981)
..Diplopia (D004172)
..Enhanced S-Cone Syndrome (C564835)
..Hemianopsia (D006423)
..Night Blindness (D009755) 14
..Photophobia (D020795) 2
..Scotoma (D012607) 1
..Siegler Brewer Carey syndrome (C537335)
..SPATIAL VISUALIZATION, APTITUDE FOR (OMIM:313000)
..Susac Syndrome (D055955)
..Vision, Low (D015354)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3777

Name:

Enhanced S-Cone Syndrome

Definition:

Alternative IDs:

OMIM:268100

ParentIDs:

MESH:D012162|MESH:D014786|MESH:D015785

TreeNumbers:

C10.597.751.941/C564835 |C11.270/C564835 |C11.768.585/C564835 |C11.966/C564835 |C16.320.290/C564835 |C23.888.592.763.941/C564835

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564835
MeSH: C564835
OMIM: 268100;

Genes: NR2E3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000518	Cataract
3	HP:0000969	Edema
4	HP:0012047	Hemeralopia
5	HP:0040049	Macular edema
6	HP:0000662	Nyctalopia
7	HP:0000655	obsolete Vitreoretinal degeneration
8	HP:0000580	Pigmentary retinopathy
9	HP:0030502	Retinoschisis
10	HP:0000550	Undetectable electroretinogram

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_014249.3(NR2E3):c.226C>T (p.Arg76Trp)	10002	NR2E3	Pathogenic	104894492	RCV000005866;	N	MedGen:C1849394,OMIM:268100	15	72103930	72103930	NM_014249.3:c.226C>T	NP_055064.1:p.Arg76Trp	NC_000015.9:g.72103930C>T	OMIM Allelic Variant:604485.0002	C1849394 268100 Enhanced s-cone syndrome
NM_014249.3(NR2E3):c.227G>A (p.Arg76Gln)	10002	NR2E3	Pathogenic	104894493	RCV000005867;	N	MedGen:C1849394,OMIM:268100	15	72103931	72103931	NM_014249.3:c.227G>A	NP_055064.1:p.Arg76Gln	NC_000015.9:g.72103931G>A	OMIM Allelic Variant:604485.0003	C1849394 268100 Enhanced s-cone syndrome
NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln)	10002	NR2E3	Likely pathogenic;Pathogenic	28937873	RCV000005869; RCV000005870; RCV000171240;	N	MedGen:C0339541,ORPHA:53540; MedGen:C1849394,OMIM:268100; MedGen:CN221809	15	72105913	72105913	NM_014249.3:c.932G>A	NP_055064.1:p.Arg311Gln	NC_000015.9:g.72105913G>A	OMIM Allelic Variant:604485.0005	C1849394 268100 Enhanced s-cone syndrome; C0339541 Goldmann-favre syndrome; CN221809 not provided