ESCS
MCID: ENH001
MIFTS: 53

Enhanced S-Cone Syndrome (ESCS)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Enhanced S-Cone Syndrome

MalaCards integrated aliases for Enhanced S-Cone Syndrome:

Name: Enhanced S-Cone Syndrome 58 12 60 38 30 13 56 6 45 15 74
Goldmann-Favre Syndrome 60 74
Escs 58 76
Retinoschisis with Early Nyctalopia 60
S-Cone Syndrome, Enhanced 41
Enhanced S Cone Syndrome 76

Characteristics:

Orphanet epidemiological data:

60
goldmann-favre syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
enhanced s-cone syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0090059
OMIM 58 268100
KEGG 38 H02075
MeSH 45 C564835
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C0339541 C1849394
Orphanet 60 ORPHA53540

Summaries for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot : 76 Enhanced S cone syndrome: Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.

MalaCards based summary : Enhanced S-Cone Syndrome, also known as goldmann-favre syndrome, is related to goldmann-favre syndrome and retinoschisis 1, x-linked, juvenile. An important gene associated with Enhanced S-Cone Syndrome is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Anti-Infective Agents and Interferon-gamma have been mentioned in the context of this disorder. Affiliated tissues include heart, prostate and retina, and related phenotypes are cataract and edema

Disease Ontology : 12 A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has material basis in homozygous or compound heterozygous mutation in the NR2E3 gene on chromosome 15q23.

Description from OMIM: 268100

Related Diseases for Enhanced S-Cone Syndrome

Diseases related to Enhanced S-Cone Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 goldmann-favre syndrome 33.9 NR2E3 NRL
2 retinoschisis 1, x-linked, juvenile 30.0 CRX RPE65
3 retinal degeneration 29.2 AIPL1 CRX NR2E3 NRL RPE65
4 leber congenital amaurosis 4 28.9 AIPL1 CRX RPE65
5 leber congenital amaurosis 28.1 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
6 retinitis pigmentosa 27.8 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
7 esterase c 11.9
8 rere-related disorders 10.7
9 aplasia cutis congenita, nonsyndromic 10.7
10 atrial fibrillation 10.6
11 heart disease 10.6
12 myocardial infarction 10.5
13 arteries, anomalies of 10.5
14 coronary artery anomaly 10.4
15 heart valve disease 10.4
16 hypertension, essential 10.4
17 acute myocardial infarction 10.4
18 thrombosis 10.4
19 cardiac conduction defect 10.4
20 vasoproliferative tumor of the retina 10.3
21 pulmonary hypertension 10.3
22 peripheral artery disease 10.3
23 infective endocarditis 10.2
24 endocarditis 10.2
25 pulmonary embolism 10.2
26 hypertrophic cardiomyopathy 10.2
27 syncope 10.2
28 congestive heart failure 10.2
29 aortic disease 10.2
30 color vision deficiency 10.1 CNGA3 NR2E3
31 coronary heart disease 1 10.1
32 cone-rod dystrophy 8 10.1 CNGA3 CRX
33 cone-rod dystrophy 9 10.1 CNGA3 CRX
34 atrial standstill 1 10.0
35 ichthyosis prematurity syndrome 10.0
36 dilated cardiomyopathy 10.0
37 measles 10.0
38 atherosclerosis susceptibility 10.0
39 cardiac arrhythmia 10.0
40 lipid metabolism disorder 10.0
41 retinitis pigmentosa 37 10.0
42 retinitis pigmentosa 27 10.0
43 macular holes 10.0
44 aortic aneurysm, familial abdominal, 1 9.9
45 amyloidosis, hereditary, transthyretin-related 9.9
46 aortic valve disease 1 9.9
47 hepatocellular carcinoma 9.9
48 cardiofaciocutaneous syndrome 1 9.9
49 carpal tunnel syndrome 9.9
50 multiple sclerosis 9.9

Graphical network of the top 20 diseases related to Enhanced S-Cone Syndrome:



Diseases related to Enhanced S-Cone Syndrome

Symptoms & Phenotypes for Enhanced S-Cone Syndrome

Human phenotypes related to Enhanced S-Cone Syndrome:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 edema 33 HP:0000969
3 nyctalopia 33 HP:0000662
4 retinoschisis 33 HP:0030502
5 pigmentary retinopathy 33 HP:0000580
6 hemeralopia 33 HP:0012047
7 macular edema 33 HP:0040049
8 vitreoretinopathy 33 HP:0007773
9 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
retinoschisis
vitreoretinal degeneration
hemeralopia
macular edema
more

Clinical features from OMIM:

268100

GenomeRNAi Phenotypes related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

27 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 CNGA3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 CNGA3 CRX NRL THRB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.77 NRL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.77 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.77 CRX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.77 NRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.77 THRB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.77 NRL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.77 CRX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.77 CRX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.77 THRB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.77 NRL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 THRB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.77 CNGA3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.77 NRL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.77 NRL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.77 NRL THRB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.77 NRL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.77 CRX
20 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.77 NRL
21 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.77 THRB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.77 THRB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.77 CRX
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.77 CRX

MGI Mouse Phenotypes related to Enhanced S-Cone Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 AIPL1 CNGA3 CRX GRK1 NR1D1 NR2E3
2 vision/eye MP:0005391 9.32 AIPL1 CNGA3 CRX GRK1 NR1D1 NR2E3

Drugs & Therapeutics for Enhanced S-Cone Syndrome

Drugs for Enhanced S-Cone Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 1, Phase 2
2 Interferon-gamma Phase 1, Phase 2
3 interferons Phase 1, Phase 2
4 Antiviral Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
2 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Enhanced S-Cone Syndrome

Cochrane evidence based reviews: enhanced s-cone syndrome

Genetic Tests for Enhanced S-Cone Syndrome

Genetic tests related to Enhanced S-Cone Syndrome:

# Genetic test Affiliating Genes
1 Enhanced S-Cone Syndrome 30 NR2E3

Anatomical Context for Enhanced S-Cone Syndrome

MalaCards organs/tissues related to Enhanced S-Cone Syndrome:

42
Heart, Prostate, Retina, Kidney, Eye, Endothelial, Bone

Publications for Enhanced S-Cone Syndrome

Articles related to Enhanced S-Cone Syndrome:

(show top 50) (show all 226)
# Title Authors Year
1
Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant. ( 30466340 )
2019
2
Enhanced S-cone syndrome: Clinical spectrum in Indian population. ( 30900587 )
2019
3
Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9. ( 30959774 )
2019
4
Stem cells as therapy for heart disease: iPSCs, ESCs, CSCs, and skeletal myoblasts. ( 30396088 )
2019
5
Uterine RGS2 expression is regulated by exogenous estrogen and progesterone in ovariectomized mice, and downregulation of RGS2 expression in artificial decidualized ESCs inhibits trophoblast spreading in vitro. ( 30412338 )
2019
6
DRUGPATH - a novel bioinformatic approach identifies DNA-damage pathway as a regulator of size maintenance in human ESCs and iPSCs. ( 30760778 )
2019
7
OCT4 and PAX6 determine the dual function of SOX2 in human ESCs as a key pluripotent or neural factor. ( 30999923 )
2019
8
Hominoid-Specific Transposable Elements and KZFPs Facilitate Human Embryonic Genome Activation and Control Transcription in Naive Human ESCs. ( 31006620 )
2019
9
A new mutation in enhanced S-cone syndrome. ( 27573156 )
2018
10
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. ( 29385733 )
2018
11
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. ( 29518905 )
2018
12
An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. ( 29947801 )
2018
13
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations. ( 29971438 )
2018
14
Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report. ( 30285900 )
2018
15
Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome). ( 30578501 )
2018
16
A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab. ( 30687072 )
2018
17
STAT3-Inducible Mouse ESCs: A Model to Study the Role of STAT3 in ESC Maintenance and Lineage Differentiation. ( 30254684 )
2018
18
A Non-canonical BCOR-PRC1.1 Complex Represses Differentiation Programs in Human ESCs. ( 29337181 )
2018
19
Engineering of a Histone-Recognition Domain in Dnmt3a Alters the Epigenetic Landscape and Phenotypic Features of Mouse ESCs. ( 29395070 )
2018
20
Neurons Generated by Mouse ESCs with Hippocampal or Cortical Identity Display Distinct Projection Patterns When Co-transplanted in the Adult Brain. ( 29456186 )
2018
21
TGFβ signaling hyperactivation-induced tumorigenicity during the derivation of neural progenitors from mouse ESCs. ( 29481611 )
2018
22
Prospective Isolation of ISL1+ Cardiac Progenitors from Human ESCs for Myocardial Infarction Therapy. ( 29503094 )
2018
23
A Sprouty4 reporter to monitor FGF/ERK signaling activity in ESCs and mice. ( 29964027 )
2018
24
The Long Noncoding RNA Lncenc1 Maintains Naive States of Mouse ESCs by Promoting the Glycolysis Pathway. ( 30174313 )
2018
25
Screening for Factors Involved in X Chromosome Inactivation Using Haploid ESCs. ( 30218355 )
2018
26
Paired CRISPR/Cas9 Nickases Mediate Efficient Site-Specific Integration of F9 into rDNA Locus of Mouse ESCs. ( 30301136 )
2018
27
Generation of Bimaternal and Bipaternal Mice from Hypomethylated Haploid ESCs with Imprinting Region Deletions. ( 30318303 )
2018
28
H3S10ph broadly marks early-replicating domains in interphase ESCs and shows reciprocal antagonism with H3K9me2. ( 29229671 )
2018
29
miR-26a promoted endometrial epithelium cells (EECs) proliferation and induced stromal cells (ESCs) apoptosis via the PTEN-PI3K/AKT pathway in dairy goats. ( 29115668 )
2018
30
Novel T3SS effector EseK in Edwardsiella piscicida is chaperoned by EscH and EscS to express virulence. ( 29024267 )
2018
31
CCL19/CCR7 contributes to the pathogenesis of endometriosis via PI3K/Akt pathway by regulating the proliferation and invasion of ESCs. ( 28856757 )
2017
32
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME. ( 28541266 )
2017
33
ESC-Track: A computer workflow for 4-D segmentation, tracking, lineage tracing and dynamic context analysis of ESCs. ( 28528574 )
2017
34
Rlim-Dependent and -Independent Pathways for X Chromosome Inactivation in Female ESCs. ( 29281819 )
2017
35
Molecular and functional resemblance of differentiated cells derived from isogenic human iPSCs and SCNT-derived ESCs. ( 29203658 )
2017
36
The similarities between smDCs and regDCs in alleviating the immune injury caused by transplantation of hepatocytes differentiated from ESCs. ( 29157299 )
2017
37
Pkm2 can enhance pluripotency in ESCs and promote somatic cell reprogramming to iPSCs. ( 29137422 )
2017
38
Combining membrane proteomics and computational three-way pathway analysis revealed signalling pathways preferentially regulated in human iPSCs and human ESCs. ( 29118436 )
2017
39
OCT4 impedes cell fate redirection by the melanocyte lineage master regulator MITF in mouse ESCs. ( 29044103 )
2017
40
PRC2 specifies ectoderm lineages and maintains pluripotency in primed but not naïve ESCs. ( 28939884 )
2017
41
A Single TCF Transcription Factor, Regardless of Its Activation Capacity, Is Sufficient for Effective Trilineage Differentiation of ESCs. ( 28877475 )
2017
42
Identification of a small molecule that facilitates the differentiation of human iPSCs/ESCs and mouse embryonic pancreatic explants into pancreatic endocrine cells. ( 28534195 )
2017
43
Comparative transcriptomic analysis identifies reprogramming and differentiation genes differentially expressed in UiPSCs and ESCs. ( 28529265 )
2017
44
2i Maintains a Naive Ground State in ESCs through Two Distinct Epigenetic Mechanisms. ( 28457889 )
2017
45
Simple Derivation of Spinal Motor Neurons from ESCs/iPSCs Using Sendai Virus Vectors. ( 28344997 )
2017
46
Single-Cell 5-Formylcytosine Landscapes of Mammalian Early Embryos and ESCs at Single-Base Resolution. ( 28343982 )
2017
47
Erratum to: Highly efficient generation of biallelic reporter gene knock-in mice via CRISPR-mediated genome editing of ESCs. ( 28284006 )
2017
48
PHB Associates with the HIRA Complex to Control an Epigenetic-Metabolic Circuit in Human ESCs. ( 27939217 )
2017
49
Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. ( 26154701 )
2016
50
Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. ( 26803827 )
2016

Variations for Enhanced S-Cone Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Enhanced S-Cone Syndrome:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 NR2E3 p.Arg76Gln VAR_009266 rs104894493
2 NR2E3 p.Arg76Trp VAR_009267 rs104894492
3 NR2E3 p.Arg97His VAR_010025 rs148914970
4 NR2E3 p.Arg104Trp VAR_010026 rs990307718
5 NR2E3 p.Glu121Lys VAR_010027 rs146403122
6 NR2E3 p.Trp234Ser VAR_010031
7 NR2E3 p.Arg309Gly VAR_010033 rs774102273
8 NR2E3 p.Arg311Gln VAR_010034 rs28937873
9 NR2E3 p.Arg385Pro VAR_010035 rs766769900
10 NR2E3 p.Met407Lys VAR_010036 rs130361310
11 NR2E3 p.Gly88Val VAR_020839 rs127813791
12 NR2E3 p.Ala256Glu VAR_020840 rs377257254
13 NR2E3 p.Leu263Pro VAR_020841
14 NR2E3 p.Leu336Pro VAR_020842 rs752883545
15 NR2E3 p.Leu353Val VAR_020843

ClinVar genetic disease variations for Enhanced S-Cone Syndrome:

6 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NM_016346.3(NR2E3): c.200_208del (p.Cys67_Gly69del) deletion Pathogenic GRCh38 Chromosome 15, 71811564: 71811572
2 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh37 Chromosome 15, 72103930: 72103930
3 NR2E3 NM_014249.3(NR2E3): c.226C> T (p.Arg76Trp) single nucleotide variant Pathogenic rs104894492 GRCh38 Chromosome 15, 71811590: 71811590
4 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh37 Chromosome 15, 72103931: 72103931
5 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh38 Chromosome 15, 71811591: 71811591
6 NR2E3 NM_016346.3(NR2E3): c.200_208del (p.Cys67_Gly69del) deletion Pathogenic GRCh37 Chromosome 15, 72103904: 72103912
7 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh37 Chromosome 15, 72105913: 72105913
8 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh38 Chromosome 15, 71813573: 71813573
9 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh37 Chromosome 15, 72106453: 72106453
10 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh38 Chromosome 15, 71814112: 71814112
11 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh37 Chromosome 15, 72103957: 72103957
12 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh38 Chromosome 15, 71811617: 71811617
13 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh38 Chromosome 15, 71811966: 71811966
14 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh37 Chromosome 15, 72104306: 72104306
15 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh38 Chromosome 15, 71811969: 71811969
16 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh37 Chromosome 15, 72104309: 72104309
17 NR2E3 NM_014249.3(NR2E3): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs1805020 GRCh37 Chromosome 15, 72104364: 72104364
18 NR2E3 NM_014249.3(NR2E3): c.419A> G (p.Glu140Gly) single nucleotide variant Benign/Likely benign rs1805020 GRCh38 Chromosome 15, 71812024: 71812024
19 NR2E3 NM_014249.3(NR2E3): c.488T> C (p.Met163Thr) single nucleotide variant Benign/Likely benign rs1805021 GRCh37 Chromosome 15, 72104433: 72104433
20 NR2E3 NM_014249.3(NR2E3): c.488T> C (p.Met163Thr) single nucleotide variant Benign/Likely benign rs1805021 GRCh38 Chromosome 15, 71812093: 71812093
21 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
22 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh37 Chromosome 15, 72103821: 72103821
23 NR2E3 NM_014249.3(NR2E3): c.505C> T (p.Leu169=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805022 GRCh38 Chromosome 15, 71812110: 71812110
24 NR2E3 NM_014249.3(NR2E3): c.505C> T (p.Leu169=) single nucleotide variant Conflicting interpretations of pathogenicity rs1805022 GRCh37 Chromosome 15, 72104450: 72104450
25 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh38 Chromosome 15, 71812458: 71812458
26 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh37 Chromosome 15, 72104798: 72104798
27 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh38 Chromosome 15, 71811784: 71811784
28 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh37 Chromosome 15, 72104124: 72104124
29 NR2E3 NM_014249.3(NR2E3): c.410C> T (p.Ser137Phe) single nucleotide variant Uncertain significance rs767828150 GRCh38 Chromosome 15, 71812015: 71812015
30 NR2E3 NM_014249.3(NR2E3): c.410C> T (p.Ser137Phe) single nucleotide variant Uncertain significance rs767828150 GRCh37 Chromosome 15, 72104355: 72104355
31 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh38 Chromosome 15, 71812176: 71812176
32 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh37 Chromosome 15, 72104516: 72104516
33 NR2E3 NM_014249.3(NR2E3): c.572-13C> T single nucleotide variant Uncertain significance rs376114936 GRCh38 Chromosome 15, 71812323: 71812323
34 NR2E3 NM_014249.3(NR2E3): c.572-13C> T single nucleotide variant Uncertain significance rs376114936 GRCh37 Chromosome 15, 72104663: 72104663
35 NR2E3 NM_014249.3(NR2E3): c.838C> G (p.Pro280Ala) single nucleotide variant Uncertain significance rs769154628 GRCh38 Chromosome 15, 71813479: 71813479
36 NR2E3 NM_014249.3(NR2E3): c.838C> G (p.Pro280Ala) single nucleotide variant Uncertain significance rs769154628 GRCh37 Chromosome 15, 72105819: 72105819
37 NR2E3 NM_014249.3(NR2E3): c.900G> A (p.Thr300=) single nucleotide variant Conflicting interpretations of pathogenicity rs184906734 GRCh38 Chromosome 15, 71813541: 71813541
38 NR2E3 NM_014249.3(NR2E3): c.900G> A (p.Thr300=) single nucleotide variant Conflicting interpretations of pathogenicity rs184906734 GRCh37 Chromosome 15, 72105881: 72105881
39 NR2E3 NM_014249.3(NR2E3): c.*197T> G single nucleotide variant Uncertain significance rs779157022 GRCh38 Chromosome 15, 71817881: 71817881
40 NR2E3 NM_014249.3(NR2E3): c.*197T> G single nucleotide variant Uncertain significance rs779157022 GRCh37 Chromosome 15, 72110222: 72110222
41 NR2E3 NM_014249.3(NR2E3): c.*231A> G single nucleotide variant Uncertain significance rs185349250 GRCh38 Chromosome 15, 71817915: 71817915
42 NR2E3 NM_014249.3(NR2E3): c.*231A> G single nucleotide variant Uncertain significance rs185349250 GRCh37 Chromosome 15, 72110256: 72110256
43 NR2E3 NM_014249.3(NR2E3): c.*340G> C single nucleotide variant Uncertain significance rs886051456 GRCh38 Chromosome 15, 71818024: 71818024
44 NR2E3 NM_014249.3(NR2E3): c.*340G> C single nucleotide variant Uncertain significance rs886051456 GRCh37 Chromosome 15, 72110365: 72110365
45 NR2E3 NM_014249.3(NR2E3): c.*554A> C single nucleotide variant Uncertain significance rs886051458 GRCh38 Chromosome 15, 71818238: 71818238
46 NR2E3 NM_014249.3(NR2E3): c.*554A> C single nucleotide variant Uncertain significance rs886051458 GRCh37 Chromosome 15, 72110579: 72110579
47 NR2E3 NM_014249.3(NR2E3): c.-139G> T single nucleotide variant Uncertain significance rs138513681 GRCh38 Chromosome 15, 71810605: 71810605
48 NR2E3 NM_014249.3(NR2E3): c.-139G> T single nucleotide variant Uncertain significance rs138513681 GRCh37 Chromosome 15, 72102945: 72102945
49 NR2E3 NM_014249.3(NR2E3): c.-47C> T single nucleotide variant Uncertain significance rs886051449 GRCh38 Chromosome 15, 71810697: 71810697
50 NR2E3 NM_014249.3(NR2E3): c.-47C> T single nucleotide variant Uncertain significance rs886051449 GRCh37 Chromosome 15, 72103037: 72103037

Expression for Enhanced S-Cone Syndrome

Search GEO for disease gene expression data for Enhanced S-Cone Syndrome.

Pathways for Enhanced S-Cone Syndrome

GO Terms for Enhanced S-Cone Syndrome

Cellular components related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 NR1D1 THRB

Biological processes related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.95 CRX NR1D1 NR2E3 NRL THRB
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 CRX NR1D1 NR2E3 NRL THRB
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.65 NR1D1 NR2E3 THRB
4 circadian rhythm GO:0007623 9.58 CRX NR1D1 RPE65
5 retina development in camera-type eye GO:0060041 9.57 NR2E3 RPE65
6 hormone-mediated signaling pathway GO:0009755 9.56 NR1D1 THRB
7 response to stimulus GO:0050896 9.56 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
8 retina homeostasis GO:0001895 9.54 AIPL1 RPE65
9 steroid hormone mediated signaling pathway GO:0043401 9.54 NR1D1 NR2E3 THRB
10 regulation of rhodopsin mediated signaling pathway GO:0022400 9.51 AIPL1 GRK1
11 intracellular receptor signaling pathway GO:0030522 9.5 NR1D1 NR2E3 THRB
12 response to lipid GO:0033993 9.49 NR1D1 THRB
13 detection of light stimulus involved in visual perception GO:0050908 9.43 RGS9BP RPE65
14 positive regulation of rhodopsin gene expression GO:0045872 9.26 NR2E3 NRL
15 visual perception GO:0007601 9.23 AIPL1 CNGA3 CRX GRK1 NR2E3 NRL
16 transcription, DNA-templated GO:0006351 9.22 THRB
17 regulation of rhodopsin gene expression GO:0007468 9.16 NRL RPE65

Molecular functions related to Enhanced S-Cone Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.72 CRX NR1D1 NR2E3 NRL THRB
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.67 CRX NR1D1 NR2E3 NRL
3 sequence-specific DNA binding GO:0043565 9.55 CRX NR1D1 NR2E3 NRL THRB
4 nuclear receptor transcription coactivator activity GO:0030374 9.4 NR1D1 THRB
5 leucine zipper domain binding GO:0043522 9.26 CRX NRL
6 steroid hormone receptor activity GO:0003707 9.13 NR1D1 NR2E3 THRB
7 nuclear receptor activity GO:0004879 8.8 NR1D1 NR2E3 THRB

Sources for Enhanced S-Cone Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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