CLDN19 (claudin 19)

Gene

• Entrez ID: 149461
• Gene name: Claudin 19
• Gene symbol: CLDN19
• Synonyms (NCBI Gene): HOMG5
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia rena

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203979	C>T	Pathogenic	Missense variant, coding sequence variant
rs118203980	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs118203981	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs145591298	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1557551678	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT518276	hsa-miR-4438	PAR-CLIP	23446348
MIRT518277	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT518275	hsa-miR-4537	PAR-CLIP	23446348
MIRT518274	hsa-miR-5095	PAR-CLIP	23446348
MIRT518273	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518272	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT518276	hsa-miR-4438	PAR-CLIP	23446348
MIRT518277	hsa-miR-6746-3p	PAR-CLIP	23446348
MIRT518275	hsa-miR-4537	PAR-CLIP	23446348
MIRT518274	hsa-miR-5095	PAR-CLIP	23446348
MIRT518273	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518272	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895230	hsa-miR-1909	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895233	hsa-miR-4311	CLIP-seq
MIRT895234	hsa-miR-4330	CLIP-seq
MIRT895235	hsa-miR-4487	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT895239	hsa-miR-581	CLIP-seq
MIRT895240	hsa-miR-636	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895242	hsa-miR-1193	CLIP-seq
MIRT895243	hsa-miR-1207-5p	CLIP-seq
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895244	hsa-miR-2114	CLIP-seq
MIRT895245	hsa-miR-2392	CLIP-seq
MIRT895246	hsa-miR-299-5p	CLIP-seq
MIRT895247	hsa-miR-3189-3p	CLIP-seq
MIRT895248	hsa-miR-3194-3p	CLIP-seq
MIRT895249	hsa-miR-3200-3p	CLIP-seq
MIRT895250	hsa-miR-3650	CLIP-seq
MIRT895251	hsa-miR-3652	CLIP-seq
MIRT895252	hsa-miR-4256	CLIP-seq
MIRT895253	hsa-miR-4260	CLIP-seq
MIRT895254	hsa-miR-431	CLIP-seq
MIRT895255	hsa-miR-4430	CLIP-seq
MIRT895256	hsa-miR-4638-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT895257	hsa-miR-4763-3p	CLIP-seq
MIRT895258	hsa-miR-485-5p	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT895259	hsa-miR-629	CLIP-seq
MIRT895260	hsa-miR-665	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895261	hsa-miR-924	CLIP-seq
MIRT1921961	hsa-miR-204	CLIP-seq
MIRT1921962	hsa-miR-211	CLIP-seq
MIRT1921963	hsa-miR-4755-5p	CLIP-seq
MIRT1921964	hsa-miR-623	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT1921961	hsa-miR-204	CLIP-seq
MIRT1921962	hsa-miR-211	CLIP-seq
MIRT1965454	hsa-miR-3187-3p	CLIP-seq
MIRT1965455	hsa-miR-326	CLIP-seq
MIRT1965456	hsa-miR-330-5p	CLIP-seq
MIRT1965457	hsa-miR-4252	CLIP-seq
MIRT1965458	hsa-miR-4266	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT1965459	hsa-miR-4435	CLIP-seq
MIRT1965460	hsa-miR-4695-5p	CLIP-seq
MIRT1965461	hsa-miR-4701-5p	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1921963	hsa-miR-4755-5p	CLIP-seq
MIRT1965462	hsa-miR-4779	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT1965464	hsa-miR-516b	CLIP-seq
MIRT1965465	hsa-miR-548ag	CLIP-seq
MIRT1965466	hsa-miR-548ai	CLIP-seq
MIRT1965467	hsa-miR-548s	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT1965468	hsa-miR-588	CLIP-seq
MIRT1965469	hsa-miR-593	CLIP-seq
MIRT1921964	hsa-miR-623	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT2201402	hsa-miR-1273d	CLIP-seq
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT1921961	hsa-miR-204	CLIP-seq
MIRT1921962	hsa-miR-211	CLIP-seq
MIRT1965455	hsa-miR-326	CLIP-seq
MIRT1965456	hsa-miR-330-5p	CLIP-seq
MIRT2201403	hsa-miR-3620	CLIP-seq
MIRT2201404	hsa-miR-3690	CLIP-seq
MIRT2201405	hsa-miR-380	CLIP-seq
MIRT1965458	hsa-miR-4266	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT2201406	hsa-miR-4308	CLIP-seq
MIRT2201407	hsa-miR-4495	CLIP-seq
MIRT2201408	hsa-miR-4535	CLIP-seq
MIRT1965460	hsa-miR-4695-5p	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT2201409	hsa-miR-4735-5p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1921963	hsa-miR-4755-5p	CLIP-seq
MIRT2201410	hsa-miR-4772-3p	CLIP-seq
MIRT2201411	hsa-miR-4775	CLIP-seq
MIRT1965462	hsa-miR-4779	CLIP-seq
MIRT2201412	hsa-miR-492	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT1965464	hsa-miR-516b	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT2201413	hsa-miR-590-3p	CLIP-seq
MIRT1965469	hsa-miR-593	CLIP-seq
MIRT1921964	hsa-miR-623	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT2504407	hsa-miR-125a-5p	CLIP-seq
MIRT2504408	hsa-miR-125b	CLIP-seq
MIRT2504409	hsa-miR-1288	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT2504410	hsa-miR-3144-5p	CLIP-seq
MIRT2504411	hsa-miR-3191	CLIP-seq
MIRT2504412	hsa-miR-3199	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT2504413	hsa-miR-4283	CLIP-seq
MIRT2504414	hsa-miR-4292	CLIP-seq
MIRT2504415	hsa-miR-4319	CLIP-seq
MIRT2504416	hsa-miR-4652-5p	CLIP-seq
MIRT2504417	hsa-miR-4667-5p	CLIP-seq
MIRT2504418	hsa-miR-4700-5p	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT2504419	hsa-miR-4725-5p	CLIP-seq
MIRT2504420	hsa-miR-4732-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT2504421	hsa-miR-504	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT2504422	hsa-miR-670	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq
MIRT895229	hsa-miR-140-3p	CLIP-seq
MIRT895231	hsa-miR-1976	CLIP-seq
MIRT895232	hsa-miR-4279	CLIP-seq
MIRT895236	hsa-miR-4722-3p	CLIP-seq
MIRT895237	hsa-miR-4740-3p	CLIP-seq
MIRT1965463	hsa-miR-498	CLIP-seq
MIRT895238	hsa-miR-552	CLIP-seq
MIRT895241	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0003406	Process	Retinal pigment epithelium development	IMP	27593915, 30937396
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	18188451, 19706394, 25910212, 28028216, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	16427635
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0007155	Process	Cell adhesion	IBA
GO:0007601	Process	Visual perception	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	27593915
GO:0010628	Process	Positive regulation of gene expression	IMP	27593915
GO:0010629	Process	Negative regulation of gene expression	IMP	27593915
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	16427635
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0030036	Process	Actin cytoskeleton organization	IMP	27593915
GO:0030054	Component	Cell junction	IEA
GO:0030336	Process	Negative regulation of cell migration	IMP	27593915
GO:0033010	Component	Paranodal junction	IEA
GO:0034329	Process	Cell junction assembly	IMP	27593915
GO:0042802	Function	Identical protein binding	IDA	28028216
GO:0042802	Function	Identical protein binding	ISS
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0043296	Component	Apical junction complex	IDA	16427635
GO:0043296	Component	Apical junction complex	IMP	27593915
GO:0043297	Process	Apical junction assembly	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	27593915
GO:0070160	Component	Tight junction	IDA	18188451
GO:0070161	Component	Anchoring junction	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070293	Process	Renal absorption	ISS
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0097453	Component	Mesaxon	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IDA	27593915
GO:0120193	Process	Tight junction organization	IEA
GO:0150111	Process	Regulation of transepithelial transport	IMP	27593915
GO:0160184	Process	Paracellular transport	IDA	18188451
GO:0160187	Function	Paracellular tight junction channel activity	IDA	18188451

Other IDs

• MIM: 610036
• HGNC: 2040
• e!Ensembl: ENSG00000164007

Protein

• UniProt ID: Q8N6F1
• Protein name: Claudin-19
• Protein function: Forms paracellular channels: coassembles with CLDN16 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:1818845
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00822	PMP22_Claudin	4 → 182	PMP-22/EMP/MP20/Claudin family	Family

• Sequence:

  MANSGLQLLGYFLALGGWVGIIASTALPQWKQSSYAGDAIITAVGLYEGLWMSCASQSTG
  QVQCKLYDSLLALDGHIQSARALMVVAVLLGFVAMVLSVVGMKCTRVGDSNPIAKGRVAI
  AGGALFILAGLCTLTAVSWYATLVTQEFFNPSTPVNARYEFGPALFVGWASAGLAVLGGS
  FLCCTCPEPERPNSSPQPYRPGPSAAAREPVVKLPASAKGPLGV

• Sequence length: 224

Pathways

KEGG:

Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C

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
CLDN19-related disorder	Likely pathogenic; Pathogenic	rs118203979	RCV003924792	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal hypomagnesemia 5 with ocular involvement	Likely pathogenic; Pathogenic	rs553635114, rs2124044159, rs118203979, rs118203980, rs118203981, rs973088841, rs780082160, rs2524372801, rs1303732063, rs145591298, rs1557551678, rs1651357824	RCV001808177 RCV001808297 RCV000001426 RCV000001427 RCV000001428 RCV002251295 RCV005930669 RCV003226607 RCV003991999 RCV004577254 RCV000662264 RCV000662265 RCV000678679 RCV001281174	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrocalcinosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Hypomagnesemia, Recessive	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	27530400		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	25366522	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Birdshot Chorioretinopathy	Birdshot chorioretinopathy	Pubtator	25366522	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33714203	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17033971		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	17033971, 23301036		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25733456		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28730076, 30268667		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	22422540	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	25366522	Associate	★☆☆☆☆ Found in Text Mining only
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Orphanet			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	21030577, 25317625	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary macular coloboma	Coloboma of macula	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	21030577, 22422540, 23301036, 25317625, 25366522	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	BEFREE	17033971		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 5, Renal, with Ocular Involvement	Hypomagnesemia Renal, With Ocular Involvement	ORPHANET_DG	17033971		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 5, Renal, with Ocular Involvement	Hypomagnesemia Renal, With Ocular Involvement	GENOMICS_ENGLAND_DG	17033971		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 5, Renal, with Ocular Involvement	Hypomagnesemia Renal, With Ocular Involvement	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT	Hypomagnesemia	GENOMICS_ENGLAND_DG	17033971, 27530400, 500385		★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT	Hypomagnesemia	UNIPROT_DG	17033971		★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT	Hypomagnesemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	29782346		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	23301036, 25366522, 26446843	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27191348		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	30305086		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	21030577, 22422540, 25317625, 25366522	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17033971, 23301036		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	17033971		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	26110394	Associate	★☆☆☆☆ Found in Text Mining only
Medullary nephrocalcinosis	Medullary nephrocalcinosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Meier Blumberg Imahorn syndrome	Meier Blumberg Imahorn Syndrome	ORPHANET_DG	17033971		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	23301036, 25366522	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	22422540, 23301036, 25366522, 25410674, 25555744, 27007868, 27191348, 27530400, 30576809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrolithiasis	Nephrolithiasis	Pubtator	28893421	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrolithiasis	Nephrolithiasis	BEFREE	29782346		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	23301036	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	22422540		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	25366522	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23301036	Associate	★☆☆☆☆ Found in Text Mining only