Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10002
Gene name	Nuclear receptor subfamily 2 group E member 3
Gene symbol	NR2E3
Synonyms (NCBI Gene)	ESCSPNRRNRRP37rd7
Chromosome	15
Chromosome location	15q23
Summary	This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2723341	A>C	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs28937873	G>A	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs104894492	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs104894493	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs112520386	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs121912631	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs368098126	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs377257254	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs527236086	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs574936510	TTT>-,T,TT	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant, frameshift variant
rs730882149	GC>AGTGTGCCTCCAGTGCCTCGCTCCA	Pathogenic	Frameshift variant, coding sequence variant
rs750740765	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs752883545	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs759339012	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs761628767	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs766096417	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs767442358	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs772881093	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs776270511	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs786205493	C>A,G,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant, missense variant
rs1555454566	ACGGCTGCA>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs1567159701	GCAGCGGCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1567160967	TGCAG>-	Pathogenic	Coding sequence variant, stop gained
rs1595956148	C>T	Pathogenic	Coding sequence variant, stop gained
rs1595956455	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595956595	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1595956702	G>C	Pathogenic	Splice donor variant
rs1595957521	G>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments
MIRT1192479	hsa-miR-320a	CLIP-seq
MIRT1192480	hsa-miR-320b	CLIP-seq
MIRT1192481	hsa-miR-320c	CLIP-seq
MIRT1192482	hsa-miR-320d	CLIP-seq
MIRT1192483	hsa-miR-4260	CLIP-seq
MIRT1192484	hsa-miR-4283	CLIP-seq
MIRT1192485	hsa-miR-4429	CLIP-seq
MIRT1192486	hsa-miR-4489	CLIP-seq
MIRT1192483	hsa-miR-4260	CLIP-seq
MIRT1192484	hsa-miR-4283	CLIP-seq
MIRT1192486	hsa-miR-4489	CLIP-seq
MIRT2284638	hsa-miR-4795-3p	CLIP-seq
MIRT2284639	hsa-miR-582-5p	CLIP-seq
MIRT2391717	hsa-miR-1293	CLIP-seq
MIRT2391718	hsa-miR-3178	CLIP-seq
MIRT2391719	hsa-miR-4481	CLIP-seq
MIRT2391720	hsa-miR-4483	CLIP-seq
MIRT2391721	hsa-miR-4745-5p	CLIP-seq
MIRT2391722	hsa-miR-4758-5p	CLIP-seq
MIRT2391723	hsa-miR-541	CLIP-seq
MIRT2391724	hsa-miR-654-5p	CLIP-seq
MIRT2284638	hsa-miR-4795-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
CRX	Activation	18294621
NRL	Activation	18294621

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10220376
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	22174013
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003707	Function	Nuclear steroid receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	TAS	10220376
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10220376
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007165	Process	Signal transduction	TAS	10220376
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10220376
GO:0007602	Process	Phototransduction	TAS	10220376
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	10220376
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22174013
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	22174013
GO:0046872	Function	Metal ion binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA

MIM	HGNC	e!Ensembl
604485	7974	ENSG00000278570

Q9Y5X4

Protein name

Photoreceptor-specific nuclear receptor (Nuclear receptor subfamily 2 group E member 3) (Retina-specific nuclear receptor)

Protein function

Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin,

PDB

4LOG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	45 → 115	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	205 → 395	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside. {ECO:0000269|PubMed:15689355}.

Sequence

METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYG
IYACNGCSGFFKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRLKKCLQAGMNQDAVQN
ERQPRSTAQVHLDSMESNTESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITA
ETCAKLEPEDADENIDVTSNDPEFPSSPYSSSSPCGLDSIHETSARLLFMAVKWAKNLPV
FSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGGAQGRLTLASMET
RVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQVMLSQHSKAH
HPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN

Sequence length

410

Interactions

View interactions

	Reactome
			Nuclear Receptor transcription pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs28937873	RCV001257807	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Color vision defect	Likely pathogenic; Pathogenic	rs2723341	RCV000626919	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs2723341, rs750740765	RCV000678584 RCV000678585	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Enhanced S-cone syndrome	Likely pathogenic; Pathogenic	rs757665544, rs760771835, rs1567160201, rs774102273, rs2140288872, rs1298419011, rs1449781976, rs2140290184, rs375133059, rs1448244599, rs202098481, rs2723341, rs527236086, rs730882149, rs35004053 View all (54 more)	RCV001836305 RCV003469626 RCV001831356 RCV001831369 RCV003462964 View all (69 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Goldmann-Favre syndrome	Pathogenic; Likely pathogenic	rs730882149, rs2723341, rs104894493, rs28937873, rs377257254, rs759339012	RCV001449814 RCV001275369 RCV001449793 RCV000005870 RCV001449815 RCV001275375 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Horizontal nystagmus	Likely pathogenic; Pathogenic	rs2723341	RCV000626919	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic	rs574936510	RCV000678583	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NR2E3-related disorder	Pathogenic; Likely pathogenic	rs774102273, rs527236086, rs35004053, rs2723341, rs104894492, rs104894493, rs28937873, rs2543253260, rs759339012	RCV004531189 RCV004532584 RCV004536548 RCV000261643 RCV004732530 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular albinism	Likely pathogenic; Pathogenic	rs2723341	RCV002243841	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs121912631	RCV006261933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121912631, rs750931603, rs527236086, rs35004053, rs2723341, rs786205493, rs368098126, rs2054207798, rs104894492, rs104894493, rs28937873, rs766096417, rs377257254, rs1555454566, rs750740765 View all (8 more)	RCV003888089 RCV003888946 RCV001075734 RCV004817197 RCV000505031 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs774102273, rs527236086, rs2723341, rs368098126, rs104894492, rs28937873, rs121912631, rs1418275818, rs766096417, rs377257254, rs1555454566, rs759339012, rs1595956455, rs1595956595, rs776270511 View all (4 more)	RCV005057350 RCV000132672 RCV000787627 RCV000787632 RCV003323352 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 37	Likely pathogenic; Pathogenic	rs527236086, rs776270511, rs730882149, rs766232933, rs2723341, rs786205493, rs368098126, rs761628767, rs104894493, rs28937873, rs121912631, rs1567160967, rs2543254500, rs1246315416, rs766096417 View all (6 more)	RCV000670387 RCV002250881 RCV000162027 RCV005002945 RCV000185571 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Visual impairment	Likely pathogenic; Pathogenic	rs2723341	RCV000626919	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the eye	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical retinitis pigmentosa	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (87)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Achromatopsia	Achromatopsia	BEFREE	12187427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24812550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	12187427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22174013, 24747967, 26901824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22174013, 24066170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28878246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26910043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	21451941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	15453866, 32881472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	BEFREE	30614359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25876005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystoid macular retinal degeneration	Cystoid Macular Retinal Degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	23989059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	BEFREE	10655056, 11487564, 11773633, 12601058, 12963616, 15459973, 16225923, 17438525, 17564971, 17601449, 19139342, 19273793, 19429590, 19898638, 19933183 View all (13 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	ORPHANET_DG	10655056		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	UNIPROT_DG	10655056, 11071390, 12963616, 15459973, 16225923, 18294254, 19006237, 24069298		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	CLINVAR_DG	10655056, 11071390, 11773633, 12963616, 15459973, 15689355, 17438525, 18294254, 19006237, 19273793, 19898638, 21364904, 24069298, 25097241, 27032803		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enhanced S-Cone Syndrome	Enhanced S-Cone Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	31768862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldmann-Favre syndrome	Goldmann-Favre Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Goldmann-Favre syndrome (disorder)	Goldmann-Favre syndrome	ORPHANET_DG	10655056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldmann-Favre syndrome (disorder)	Goldmann-Favre syndrome	CLINVAR_DG	10655056, 11071390, 16024868, 17438525, 18294254, 18835469, 19006237, 19139342, 19273793, 19823680, 19898638, 26355662, 26894784, 27874104, 28944237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldmann-Favre syndrome (disorder)	Goldmann-Favre syndrome	BEFREE	12963616, 19139342, 19718767, 19852574, 24891813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldmann-Favre syndrome (disorder)	Goldmann-Favre syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	25876005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	36071243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	24891813	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	28300834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23989059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	21730849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22174013, 24747967, 26901824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28878246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22025681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25876005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24747967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21364904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	32881472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	12187427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	19139342, 20171741, 30324420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22174013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Degeneration	Retinal degeneration	Pubtator	10220376, 11773633, 21364904, 24069298, 25703721, 31117170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	17982421, 18294254, 19273793, 24498227, 28300834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	LHGDN	19273793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	22025681, 24066170, 24069298, 28300834, 31083481, 38453143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	BEFREE	10805811, 11487564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	LHGDN	11487564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	30324420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	17564971, 17982421		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	17564971, 19823680, 22128245, 22605927, 22661467, 23559859, 23950152, 24069298, 26910043, 28076437, 29034877, 31083481, 33007388	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	19006237, 19273793, 19718767, 19825837, 19933183, 24498227		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 37 (disorder)	Retinitis Pigmentosa	CLINVAR_DG	10655056, 11071390, 11773633, 12963616, 15459973, 15689355, 17438525, 18294254, 19006237, 19273793, 19898638, 21364904, 23591405, 24069298, 25097241, 27032803 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 37 (disorder)	Retinitis Pigmentosa	UNIPROT_DG	17564971, 19006237		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 37 (disorder)	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 37 (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	10220376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	18835469, 26910043, 33138239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NR2E3 (nuclear receptor subfamily 2 group E member 3)