NDP (norrin cystine knot growth factor NDP)

Gene

• Entrez ID: 4693
• Gene name: Norrin cystine knot growth factor NDP
• Gene symbol: NDP
• Synonyms (NCBI Gene): EVR2, FEVR, ND
• Chromosome: X
• Chromosome location: Xp11.3
• Summary: This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018294	hsa-miR-335-5p	Microarray	18185580
MIRT1178158	hsa-miR-3662	CLIP-seq
MIRT1178159	hsa-miR-3684	CLIP-seq
MIRT1178160	hsa-miR-4698	CLIP-seq
MIRT2051533	hsa-miR-1972	CLIP-seq
MIRT2051534	hsa-miR-4717-5p	CLIP-seq
MIRT2051535	hsa-miR-4755-3p	CLIP-seq
MIRT2051536	hsa-miR-4786-3p	CLIP-seq
MIRT2051537	hsa-miR-503	CLIP-seq
MIRT2391441	hsa-miR-141	CLIP-seq
MIRT2391442	hsa-miR-200a	CLIP-seq
MIRT2391443	hsa-miR-2277-3p	CLIP-seq
MIRT2391444	hsa-miR-3660	CLIP-seq
MIRT2391445	hsa-miR-4293	CLIP-seq
MIRT2391446	hsa-miR-4526	CLIP-seq
MIRT2454970	hsa-miR-2467-3p	CLIP-seq
MIRT2454971	hsa-miR-28-3p	CLIP-seq
MIRT2454972	hsa-miR-3678-3p	CLIP-seq
MIRT2454973	hsa-miR-556-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000320	Process	Re-entry into mitotic cell cycle	IEA
GO:0001508	Process	Action potential	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001890	Process	Placenta development	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0003407	Process	Neural retina development	IEA
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005109	Function	Frizzled binding	IPI	17955262
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	17955262
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	17955262, 19837033
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	15035989, 17955262
GO:0005615	Component	Extracellular space	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006544	Process	Glycine metabolic process	IEA
GO:0006563	Process	L-serine metabolic process	IEA
GO:0006622	Process	Protein targeting to lysosome	IEA
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007033	Process	Vacuole organization	TAS	10484772
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8252044
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10484772
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0009986	Component	Cell surface	IDA	17955262
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0035426	Process	Extracellular matrix-cell signaling	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	17955262
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17955262
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15035989
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046697	Process	Decidualization	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0060996	Process	Dendritic spine development	IEA
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IEA
GO:0061518	Process	Microglial cell proliferation	IEA
GO:0070086	Process	Ubiquitin-dependent endocytosis	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0097601	Process	Retina blood vessel maintenance	IEA
GO:0110135	Process	Norrin signaling pathway	IBA
GO:0110135	Process	Norrin signaling pathway	IDA	15035989, 17955262
GO:0110135	Process	Norrin signaling pathway	IEA
GO:1904390	Process	Cone retinal bipolar cell differentiation	IEA
GO:1990963	Process	Establishment of blood-retinal barrier	IEA

Other IDs

• MIM: 300658
• HGNC: 7678
• e!Ensembl: ENSG00000124479

Protein

• UniProt ID: Q00604
• Protein name: Norrin (Norrie disease protein) (X-linked exudative vitreoretinopathy 2 protein)
• Protein function: Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated tra
• PDB: 4MY2, 5BPU, 5BQ8, 5BQB, 5BQC, 5BQE, 5CL1, 8WVX, 8WVY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00007	Cys_knot	37 → 133	Cystine-knot domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain. {ECO:0000269|PubMed:10452356}.
• Sequence:

  MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMV
  LLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATY
  RYILSCHCEECNS

• Sequence length: 133

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Atrophia bulborum hereditaria	Likely pathogenic; Pathogenic	rs2147204677, rs200594881, rs2147204801, rs2519320479, rs727504031, rs2519315108, rs1235711153, rs104894868, rs104894869, rs104894870, rs104894871, rs104894872, rs104894873, rs28933685, rs104894878, rs104894879, rs104894880, rs104894874, rs2147209204, rs104894875, rs104894877, rs137852221, rs104894882, rs104894883, rs886043097, rs1057518793, rs398123283	RCV001526728 RCV001591803 RCV001824259 RCV002283635 RCV000153538 RCV002471458 RCV002471576 RCV000011426 RCV000011427 RCV000011428 RCV000011429 RCV000011431 RCV000011432 RCV000011433 RCV003334376 RCV000011435 RCV000011436 RCV004585995 RCV000011438 RCV000011439 RCV000011442 RCV000011443 RCV000011444 RCV000011445 RCV002244734 RCV004577256 RCV000415091 RCV001822998	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Exudative vitreoretinopathy 2, X-linked	Likely pathogenic; Pathogenic	rs104894868, rs28933684, rs104894878, rs104894874, rs104894876, rs137852220, rs2147204853, rs1460859456	RCV003313916 RCV000011430 RCV000011434 RCV005049330 RCV000011440 RCV000011441 RCV004560503 RCV000626125	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Exudative vitreoretinopathy, X-linked	Pathogenic	rs104894874	RCV000011437	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
High myopia	Likely pathogenic	rs1057518836	RCV000415329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Likely pathogenic	rs1057518836	RCV000415329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Persistent hyperplastic primary vitreous	Likely pathogenic	rs1057518836	RCV000415329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal detachment	Likely pathogenic	rs1555976049	RCV000626638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2147204715, rs104894877, rs104894878, rs104894880, rs886043023, rs1057518793	RCV004815579 RCV004816836 RCV004814881 RCV004814882 RCV004816499 RCV004816643	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short lingual frenulum	Likely pathogenic	rs1057518836	RCV000415329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Coats disease	Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EXUDATIVE RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE VITREORETINOPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial exudative vitreoretinopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDP-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ALDOSTERONISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Albinism	Albinism	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	26130484		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	26130484	Associate	★☆☆☆☆ Found in Text Mining only
Anterior chamber synechiae	Chamber synechiae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29845607		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24715757	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32182224	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	7931824		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	Pubtator	29860944	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)	Cerebroretinal Microangiopathy With Calcifications And Cysts	BEFREE	23220793		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Coats disease	Coats Disease	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coloboma	Coloboma	Pubtator	26130484	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17386109	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17386109, 25005225	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25005225		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	BEFREE	29654250, 8541872		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29617172		★☆☆☆☆ Found in Text Mining only
Congenital retinal fold	Congenital Retinal Fold	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal neovascularization	Pubtator	38243264	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	22414661		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	29617172		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	8541872		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	10484772, 16379592, 16970763, 23220793, 29617172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative retinopathy	Exudative retinopathy	ORPHANET_DG	10484772		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	20491809, 8946107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative vitreoretinopathy	Exudative Vitreoretinopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative vitreoretinopathy 1	Exudative vitreoretinopathy	Pubtator	16163268	Associate	★☆☆☆☆ Found in Text Mining only
Exudative Vitreoretinopathy, Familial, X-Linked Recessive	Exudative vitreoretinopathy	UNIPROT_DG	16163268, 16970763, 17296899, 17325173, 8252044, 8946107, 9143917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative Vitreoretinopathy, Familial, X-Linked Recessive	Exudative vitreoretinopathy	GENOMICS_ENGLAND_DG	29617172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative Vitreoretinopathy, Familial, X-Linked Recessive	Exudative vitreoretinopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative Vitreoretinopathy, Familial, X-Linked Recessive	Exudative vitreoretinopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye Diseases	Eye disease	Pubtator	35361573	Associate	★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	16970763, 17325173, 17955262, 20159111, 20159112, 20227630, 20340138, 21151595, 22563645, 25124931, 25323851, 27217716, 28002565, 28225725, 28356706, 29181528, 30354230, 30452590, 30768221, 31009104, 31169861, 31237656, 8252044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial exudative vitreoretinopathy	Exudative Vitreoretinopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32182224	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	22414661		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	23201751		★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	17334993		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28602015		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	25182519		★☆☆☆☆ Found in Text Mining only
Irvine-Gass Syndrome	Postoperative cataract syndrome	CTD_human_DG	29654250		★☆☆☆☆ Found in Text Mining only
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	29156058		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16944304		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	CTD_human_DG	29654250		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	CTD_human_DG	29654250		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	7931824		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	8924224		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	28602015		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25124931		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	26130484	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25268740		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25268740	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	7931824		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	8314592		★☆☆☆☆ Found in Text Mining only
Neuroretinitis	Neuroretinitis	CTD_human_DG	29654250		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	UNIPROT_DG	10484772, 10544980, 11337749, 1303264, 1307245, 14635119, 15609522, 15776010, 16970763, 17128466, 17296899, 17325173, 17334993, 20340138, 7627181, 7662640, 7795608, 7993212, 8069314, 8268931, 8281159, 8589700, 8741107, 8807344, 8990009, 9143918, 9382152, 9407136		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	11385715, 1453434, 14635119, 16035034, 16163268, 16970763, 17325173, 17334993, 18366384, 19373682, 20227630, 20340138, 20491809, 21179243, 22563645, 23220793, 24801666, 25023092, 25944760, 28742514, 28922694, 30640974, 8252044, 8541872, 8835523, 9003348, 9143917		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	CLINGEN_DG	12040033, 1303264, 1307245, 15035989, 15716406, 22786811, 28922694, 7627181, 8314592, 8789439, 8990009, 9109762, 9143918		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	GENOMICS_ENGLAND_DG	29617172, 30125416, 9382152		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	ORPHANET_DG	9228243		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	27818488	Associate	★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	19373682, 20491809		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Persistent hyperplastic primary vitreous	Persistent Hyperplastic Primary Vitreous	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	25945592		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal detachment	Pubtator	35656167, 38146894	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal Detachment	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Diseases	Retinal Diseases	BEFREE	19373682, 28602015, 30640974		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32420371	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL	PERSISTENT FETAL VASCULATURE	BEFREE	28192794		★☆☆☆☆ Found in Text Mining only
Retinitis	Retinitis	CTD_human_DG	29654250		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	29133643	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	LHGDN	11748312, 12145535, 16052165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	16052165	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of Prematurity	Retinopathy	BEFREE	16970763, 20008721, 20227630, 23441120, 31009104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of prematurity	Retinopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	28225725		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22414661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	22414661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocornea	Sclerocornea	BEFREE	26130484		★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	28602015		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30202955		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19373682		★☆☆☆☆ Found in Text Mining only
Vascular Neoplasms	Vascular neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	BEFREE	29927473		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	17334993		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	LHGDN	17334993		★☆☆☆☆ Found in Text Mining only