CLDN16 (claudin 16)

Gene

• Entrez ID: 10686
• Gene name: Claudin 16
• Gene symbol: CLDN16
• Synonyms (NCBI Gene): HOMG3, PCLN1
• Chromosome: 3
• Chromosome location: 3q28
• Summary: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893720	C>T	Pathogenic	Stop gained, coding sequence variant
rs104893721	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104893722	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893723	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893724	T>C,G	Pathogenic	Initiator codon variant, missense variant
rs104893725	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893726	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893727	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893728	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893729	G>T	Pathogenic	Missense variant, coding sequence variant
rs104893730	T>G	Pathogenic	Missense variant, coding sequence variant
rs104893731	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893732	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908542	C>G	Pathogenic	Missense variant, coding sequence variant
rs121908543	T>G	Pathogenic	Stop gained, coding sequence variant
rs138308105	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs387906880	A>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs751959432	G>A,C	Likely-pathogenic	Intron variant
rs765256758	C>T	Pathogenic	Coding sequence variant, missense variant
rs1253995767	->TTAA	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1553809654	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1577430815	G>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT649504	hsa-miR-548n	HITS-CLIP	23824327
MIRT649503	hsa-miR-548a-5p	HITS-CLIP	23824327
MIRT649502	hsa-miR-548ab	HITS-CLIP	23824327
MIRT649501	hsa-miR-548ad-5p	HITS-CLIP	23824327
MIRT649500	hsa-miR-548ae-5p	HITS-CLIP	23824327
MIRT649499	hsa-miR-548ak	HITS-CLIP	23824327
MIRT649498	hsa-miR-548am-5p	HITS-CLIP	23824327
MIRT649497	hsa-miR-548ap-5p	HITS-CLIP	23824327
MIRT649496	hsa-miR-548aq-5p	HITS-CLIP	23824327
MIRT649495	hsa-miR-548ar-5p	HITS-CLIP	23824327
MIRT649494	hsa-miR-548as-5p	HITS-CLIP	23824327
MIRT649493	hsa-miR-548au-5p	HITS-CLIP	23824327
MIRT649492	hsa-miR-548ay-5p	HITS-CLIP	23824327
MIRT649491	hsa-miR-548b-5p	HITS-CLIP	23824327
MIRT649490	hsa-miR-548bb-5p	HITS-CLIP	23824327
MIRT649489	hsa-miR-548c-5p	HITS-CLIP	23824327
MIRT649488	hsa-miR-548d-5p	HITS-CLIP	23824327
MIRT649487	hsa-miR-548h-5p	HITS-CLIP	23824327
MIRT649486	hsa-miR-548i	HITS-CLIP	23824327
MIRT649485	hsa-miR-548j-5p	HITS-CLIP	23824327
MIRT649484	hsa-miR-548o-5p	HITS-CLIP	23824327
MIRT649483	hsa-miR-548w	HITS-CLIP	23824327
MIRT649482	hsa-miR-548y	HITS-CLIP	23824327
MIRT649481	hsa-miR-559	HITS-CLIP	23824327
MIRT649479	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT649480	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT649478	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649477	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT649475	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649476	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649474	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT649504	hsa-miR-548n	HITS-CLIP	23824327
MIRT649503	hsa-miR-548a-5p	HITS-CLIP	23824327
MIRT649502	hsa-miR-548ab	HITS-CLIP	23824327
MIRT649501	hsa-miR-548ad-5p	HITS-CLIP	23824327
MIRT649500	hsa-miR-548ae-5p	HITS-CLIP	23824327
MIRT649499	hsa-miR-548ak	HITS-CLIP	23824327
MIRT649498	hsa-miR-548am-5p	HITS-CLIP	23824327
MIRT649497	hsa-miR-548ap-5p	HITS-CLIP	23824327
MIRT649496	hsa-miR-548aq-5p	HITS-CLIP	23824327
MIRT649495	hsa-miR-548ar-5p	HITS-CLIP	23824327
MIRT649494	hsa-miR-548as-5p	HITS-CLIP	23824327
MIRT649493	hsa-miR-548au-5p	HITS-CLIP	23824327
MIRT649492	hsa-miR-548ay-5p	HITS-CLIP	23824327
MIRT649491	hsa-miR-548b-5p	HITS-CLIP	23824327
MIRT649490	hsa-miR-548bb-5p	HITS-CLIP	23824327
MIRT649489	hsa-miR-548c-5p	HITS-CLIP	23824327
MIRT649488	hsa-miR-548d-5p	HITS-CLIP	23824327
MIRT649487	hsa-miR-548h-5p	HITS-CLIP	23824327
MIRT649486	hsa-miR-548i	HITS-CLIP	23824327
MIRT649485	hsa-miR-548j-5p	HITS-CLIP	23824327
MIRT649484	hsa-miR-548o-5p	HITS-CLIP	23824327
MIRT649483	hsa-miR-548w	HITS-CLIP	23824327
MIRT649482	hsa-miR-548y	HITS-CLIP	23824327
MIRT649481	hsa-miR-559	HITS-CLIP	23824327
MIRT649479	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT649480	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT649478	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT649477	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT649475	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649476	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649474	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT895143	hsa-miR-106a	CLIP-seq
MIRT895144	hsa-miR-106b	CLIP-seq
MIRT895145	hsa-miR-1193	CLIP-seq
MIRT895146	hsa-miR-150	CLIP-seq
MIRT895147	hsa-miR-17	CLIP-seq
MIRT895148	hsa-miR-192	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT895150	hsa-miR-20a	CLIP-seq
MIRT895151	hsa-miR-20b	CLIP-seq
MIRT895152	hsa-miR-215	CLIP-seq
MIRT895153	hsa-miR-2392	CLIP-seq
MIRT895154	hsa-miR-300	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT895156	hsa-miR-3605-3p	CLIP-seq
MIRT895157	hsa-miR-3646	CLIP-seq
MIRT895158	hsa-miR-381	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT895160	hsa-miR-4270	CLIP-seq
MIRT895161	hsa-miR-4422	CLIP-seq
MIRT895162	hsa-miR-4441	CLIP-seq
MIRT895163	hsa-miR-4450	CLIP-seq
MIRT895164	hsa-miR-4662a-5p	CLIP-seq
MIRT895165	hsa-miR-4666-3p	CLIP-seq
MIRT895166	hsa-miR-4676-5p	CLIP-seq
MIRT895167	hsa-miR-4706	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT895169	hsa-miR-4749-5p	CLIP-seq
MIRT895170	hsa-miR-4757-5p	CLIP-seq
MIRT895171	hsa-miR-4772-3p	CLIP-seq
MIRT895172	hsa-miR-4789-5p	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT895174	hsa-miR-519d	CLIP-seq
MIRT895175	hsa-miR-520g	CLIP-seq
MIRT895176	hsa-miR-520h	CLIP-seq
MIRT895177	hsa-miR-542-5p	CLIP-seq
MIRT895178	hsa-miR-548h	CLIP-seq
MIRT895179	hsa-miR-548j	CLIP-seq
MIRT895180	hsa-miR-548l	CLIP-seq
MIRT895181	hsa-miR-572	CLIP-seq
MIRT895182	hsa-miR-575	CLIP-seq
MIRT895183	hsa-miR-640	CLIP-seq
MIRT895184	hsa-miR-744	CLIP-seq
MIRT895185	hsa-miR-93	CLIP-seq
MIRT1920359	hsa-miR-1236	CLIP-seq
MIRT895178	hsa-miR-548h	CLIP-seq
MIRT895179	hsa-miR-548j	CLIP-seq
MIRT1920359	hsa-miR-1236	CLIP-seq
MIRT895178	hsa-miR-548h	CLIP-seq
MIRT895179	hsa-miR-548j	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT1965425	hsa-miR-122	CLIP-seq
MIRT1965426	hsa-miR-130a	CLIP-seq
MIRT1965427	hsa-miR-130b	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT1965429	hsa-miR-301a	CLIP-seq
MIRT1965430	hsa-miR-301b	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT1965431	hsa-miR-3666	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT1965433	hsa-miR-4295	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965436	hsa-miR-4466	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT1965438	hsa-miR-454	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965440	hsa-miR-4740-3p	CLIP-seq
MIRT1965441	hsa-miR-4761-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT895181	hsa-miR-572	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT1965444	hsa-miR-675	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT1965425	hsa-miR-122	CLIP-seq
MIRT1965426	hsa-miR-130a	CLIP-seq
MIRT1965427	hsa-miR-130b	CLIP-seq
MIRT1965429	hsa-miR-301a	CLIP-seq
MIRT1965430	hsa-miR-301b	CLIP-seq
MIRT1965431	hsa-miR-3666	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT1965433	hsa-miR-4295	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT2201385	hsa-miR-4438	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965436	hsa-miR-4466	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT1965438	hsa-miR-454	CLIP-seq
MIRT895170	hsa-miR-4757-5p	CLIP-seq
MIRT2201386	hsa-miR-5095	CLIP-seq
MIRT1965444	hsa-miR-675	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT2447129	hsa-miR-1267	CLIP-seq
MIRT2447130	hsa-miR-1273f	CLIP-seq
MIRT2447131	hsa-miR-1289	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT2447132	hsa-miR-143	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT2447133	hsa-miR-3198	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT2447134	hsa-miR-4269	CLIP-seq
MIRT2447135	hsa-miR-4294	CLIP-seq
MIRT2447136	hsa-miR-4309	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT2447137	hsa-miR-4534	CLIP-seq
MIRT2447138	hsa-miR-4708-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT2447139	hsa-miR-4770	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT2447140	hsa-miR-720	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT1965424	hsa-miR-1202	CLIP-seq
MIRT1965425	hsa-miR-122	CLIP-seq
MIRT1965426	hsa-miR-130a	CLIP-seq
MIRT1965427	hsa-miR-130b	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT1965429	hsa-miR-301a	CLIP-seq
MIRT1965430	hsa-miR-301b	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT1965431	hsa-miR-3666	CLIP-seq
MIRT1965432	hsa-miR-3972	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT2447134	hsa-miR-4269	CLIP-seq
MIRT1965433	hsa-miR-4295	CLIP-seq
MIRT1965434	hsa-miR-4423-5p	CLIP-seq
MIRT1965435	hsa-miR-4463	CLIP-seq
MIRT1965436	hsa-miR-4466	CLIP-seq
MIRT1965437	hsa-miR-4494	CLIP-seq
MIRT1965438	hsa-miR-454	CLIP-seq
MIRT895164	hsa-miR-4662a-5p	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq
MIRT1965444	hsa-miR-675	CLIP-seq
MIRT1965428	hsa-miR-1343	CLIP-seq
MIRT895149	hsa-miR-197	CLIP-seq
MIRT895155	hsa-miR-3149	CLIP-seq
MIRT895159	hsa-miR-411	CLIP-seq
MIRT2447134	hsa-miR-4269	CLIP-seq
MIRT895168	hsa-miR-4716-5p	CLIP-seq
MIRT1965439	hsa-miR-4735-5p	CLIP-seq
MIRT1965442	hsa-miR-4775	CLIP-seq
MIRT895173	hsa-miR-5096	CLIP-seq
MIRT1965443	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	14628289, 18188451, 19706394, 22373575, 28028216
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0005923	Component	Bicellular tight junction	TAS	10390358
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0010496	Process	Intercellular transport	TAS	10390358
GO:0015095	Function	Magnesium ion transmembrane transporter activity	TAS	10390358
GO:0016020	Component	Membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0030001	Process	Metal ion transport	TAS	10390358
GO:0030003	Process	Intracellular monoatomic cation homeostasis	TAS	10390358
GO:0030165	Function	PDZ domain binding	IDA	14628289
GO:0042802	Function	Identical protein binding	IDA	28028216
GO:0042802	Function	Identical protein binding	ISS
GO:0070160	Component	Tight junction	IDA	14628289, 16234325, 18188451
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0160184	Process	Paracellular transport	IDA	16234325, 18188451
GO:0160184	Process	Paracellular transport	IEA
GO:0160187	Function	Paracellular tight junction channel activity	IDA	16234325, 18188451
GO:1903830	Process	Magnesium ion transmembrane transport	IEA

Other IDs

• MIM: 603959
• HGNC: 2037
• e!Ensembl: ENSG00000113946

Protein

• UniProt ID: Q9Y5I7
• Protein name: Claudin-16 (Paracellin-1) (PCLN-1)
• Protein function: Forms paracellular channels: coassembles with CLDN19 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:1623432
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00822	PMP22_Claudin	72 → 253	PMP-22/EMP/MP20/Claudin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Kidney-specific, including the thick ascending limb of Henle (TAL). {ECO:0000269|PubMed:10390358}.
• Sequence:

  MTSRTPLLVTACLYYSYCNSRHLQQGVRKSKRPVFSHCQVPETQKTDTRHLSGARAGVCP
  CCHPDGLLATMRDLLQYIACFFAFFSAGFLIVATWTDCWMVNADDSLEVSTKCRGLWWEC
  VTNAFDGIRTCDEYDSILAEHPLKLVVTRALMITADILAGFGFLTLLLGLDCVKFLPDEP
  YIKVRICFVAGATLLIAGTPGIIGSVWYAVDVYVERSTLVLHNIFLGIQYKFGWSCWLGM
  AGSLGCFLAGAVLTCCLYLFKDVGPERNYPYSLRKAYSAAGVSMAKSYSAPRTETAKMYA
  VDTRV

• Sequence length: 305

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
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING	Pathogenic	rs121908542	RCV000006302	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hypomagnesemia	Likely pathogenic; Pathogenic	rs753901053, rs968906940, rs2108670592, rs2108658339, rs104893728, rs1718987504, rs1577432872, rs104893720, rs104893721, rs104893722, rs104893723, rs104893724, rs104893725, rs104893727, rs104893729, rs104893730, rs104893731, rs104893732, rs1577432849, rs121908543, rs2473800393, rs1007522348, rs387906880, rs1553809654, rs765256758, rs1253995767, rs138308105, rs751959432, rs1577430815, rs772241737	RCV005360371 RCV001564039 RCV001568363 RCV001568368 RCV001780794 RCV005025679 RCV002502045 RCV000006288 RCV000006289 RCV000006290 RCV000006291 RCV000006292 RCV000006293 RCV000006295 RCV000006296 RCV000006297 RCV000006298 RCV000006299 RCV000006300 RCV000006301 RCV000006303 RCV003994626 RCV004585142 RCV000023358 RCV000505624 RCV000656736 RCV000656737 RCV000678491 RCV000853501 RCV000987375 RCV003142041	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal hypomagnesemia 5 with ocular involvement	Likely pathogenic	rs1293775732	RCV001195722	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CLDN16-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF MAGNESIUM METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrocalcinosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA 5	—	Disgenet	★★☆☆☆ 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	26426912		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29967939		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18442037, 20664984, 21717372		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30689816		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	16924549	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	12185465		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26136118		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	16924549	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32747424	Associate	★☆☆☆☆ Found in Text Mining only
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement	Orphanet			★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	16924549	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	18003771	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	16924549	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	14628289, 16595585, 16924549, 18003771, 20607983, 22422540, 23301036, 24321194, 26136118, 30005619, 30102483, 30621608, 40428323	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	14628289	Associate	★☆☆☆☆ Found in Text Mining only
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING	Hypercalciuria	ORPHANET_DG	10878661, 11518780, 18816383		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING	Hypercalciuria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	16924549	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	30005619	Associate	★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia	BEFREE	21669885		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	BEFREE	17918133		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	17872384, 18446382, 24948743, 29782346		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21030577, 27191348, 29991461		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21030577, 26446843, 30005619, 31357502	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	12185465, 16501001, 16924549		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	14628289, 24321194, 26136118, 30005619, 35022288	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12185465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18442037, 20664984, 21717372		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30689816		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18442037, 21717372		★☆☆☆☆ Found in Text Mining only
Medullary nephrocalcinosis	Medullary nephrocalcinosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21717372		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	10878661, 10995564, 11518780, 12185465, 12584272, 16047219, 16501001, 16804318, 17347984, 19538297, 21669885, 21717354, 22422540, 24948743, 25366522, 25477417, 26136118, 27067446, 27191348, 29129401, 29782346, 30005619, 30576809, 30621608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrocalcinosis	Nephrocalcinosis	LHGDN	18003771		★★☆☆☆ 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	Pubtator	14628289, 24321194, 28893421, 40428323	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrolithiasis	Nephrolithiasis	BEFREE	17872384, 18446382, 24948743, 29782346		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★☆☆ 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
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	16676402		★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia (disorder)	Hypomagnesemia	UNIPROT_DG	10390358, 10878661, 11518780		★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia (disorder)	Hypomagnesemia	CLINVAR_DG	10878661, 11518780, 15856319, 16234325, 20607983, 25477417		★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia (disorder)	Hypomagnesemia	ORPHANET_DG	10878661, 11518780, 18816383		★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia (disorder)	Hypomagnesemia	GENOMICS_ENGLAND_DG	26426912, 27604308		★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia (disorder)	Hypomagnesemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	16924549, 22422540		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	LHGDN	16924549		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	17872384, 18446382		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only