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encyclopedia of Rare Disease Annotation for Precision Medicine

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	enhanced s-cone syndrome

Disease ID	1870
Disease	enhanced s-cone syndrome
Synonym	escs
Orphanet	ORPHANET:53540
OMIM	OMIM:268100
UMLS	C1849394
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0014175 \| endometriosis \| 6 C0023418 \| leukemia \| 3 C0039538 \| teratomas \| 2 C0039538 \| teratoma \| 2 C0000786 \| miscarriage \| 1 C0151744 \| ischaemic heart disease \| 1 C0271051 \| macular edema \| 1 C0341858 \| adenomyosis \| 1 C0024440 \| cystoid macular edema \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 10002 \| NR2E3 \| CLINVAR;CTD_human;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:19) 199 \| AIF1 \| 1.674 \| DISEASES 23746 \| AIPL1 \| 3.871 \| DISEASES 6314 \| ATXN7 \| 2.29 \| DISEASES 7439 \| BEST1 \| 2.252 \| DISEASES 778 \| CACNA1F \| 2.612 \| DISEASES 1301 \| COL11A1 \| 2.576 \| DISEASES 1280 \| COL2A1 \| 1.929 \| DISEASES 23418 \| CRB1 \| 2.503 \| DISEASES 6011 \| GRK1 \| 2.999 \| DISEASES 169522 \| KCNV2 \| 3.557 \| DISEASES 83552 \| MFRP \| 3.828 \| DISEASES 4567 \| MT-TL1 \| 3.027 \| DISEASES 4901 \| NRL \| 5.529 \| DISEASES 60506 \| NYX \| 2.968 \| DISEASES 94233 \| OPN4 \| 2.733 \| DISEASES 388531 \| RGS9BP \| 4.405 \| DISEASES 6103 \| RPGR \| 2.365 \| DISEASES 57096 \| RPGRIP1 \| 2.838 \| DISEASES 7068 \| THRB \| 3.608 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1870
Disease	enhanced s-cone syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0030127 \| Endometriosis \| 6 HP:0001909 \| Leukemia \| 3 HP:0002664 \| Neoplasia \| 2 HP:0009792 \| Teratoma \| 2 HP:0040049 \| Macular edema \| 1 HP:0011505 \| Cystoid macular edema \| 1 HP:0012125 \| Prostate cancer \| 1

Disease ID	1870
Disease	enhanced s-cone syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0152439 \| retinoschisis
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
NR2E3	p.R311Q	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894492	NA	10002	NR2E3	umls:C1849394	CLINVAR	NA	0.445971721	NA	NR2E3	15	71811590	C	T
rs104894493	NA	10002	NR2E3	umls:C1849394	CLINVAR	NA	0.445971721	NA	NR2E3	15	71811591	G	A
rs146403122	19933183	10002	NR2E3	umls:C1849394	BeFree	The p.E121K in NR2E3 is a common SNP in the Chinese, suggesting another genetic or environmental factor is involved in its causative role in ESCS in Caucasians.	0.445971721	2010	NR2E3	15	71811966	G	A
rs28937873	NA	10002	NR2E3	umls:C1849394	CLINVAR	NA	0.445971721	NA	NR2E3	15	71813573	G	A
rs28937873	11773633	10002	NR2E3	umls:C1849394	BeFree	We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q.	0.445971721	2002	NR2E3	15	71813573	G	A
rs28937873	19429590	10002	NR2E3	umls:C1849394	BeFree	The retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice.	0.445971721	2009	NR2E3	15	71813573	G	A
rs28937873	10655056	10002	NR2E3	umls:C1849394	UNIPROT	Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.	0.445971721	2000	NR2E3	15	71813573	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1870
Disease	enhanced s-cone syndrome
Case	(Waiting for update.)

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