SLC34A1 (solute carrier family 34 member 1)

Gene

• Entrez ID: 6569
• Gene name: Solute carrier family 34 member 1
• Gene symbol: SLC34A1
• Synonyms (NCBI Gene): FRTS2, HCINF2, NAPI-3, NPHLOP1, NPT2, NPTIIa, SLC11, SLC17A2
• Chromosome: 5
• Chromosome location: 5q35.3
• Summary: This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918610	GC>TT	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs121918611	G>A,C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs142772770	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs146919762	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs148976897	C>T	Likely-benign, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs150592440	G>A,C	Pathogenic, likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant, non coding transcript variant
rs200095793	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs200893951	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs201304511	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs201331677	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs376131751	G>C	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs769409705	G>C,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs876661296	TCCCCAAGCTGCGCCAGGCTG>-	Benign, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, inframe deletion
rs876661338	T>G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1554095263	->ATCCTGGTGACCGTGCTGGTG	Pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant, genic upstream transcript variant
rs1554095500	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs1554095568	C>T	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1581634382	GGGCCCTGTGGCCCTTGCTG>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1359987	hsa-miR-1269	CLIP-seq
MIRT1359988	hsa-miR-1269b	CLIP-seq
MIRT1359989	hsa-miR-146b-3p	CLIP-seq
MIRT1359990	hsa-miR-153	CLIP-seq
MIRT1359991	hsa-miR-3152-5p	CLIP-seq
MIRT1359992	hsa-miR-3160-5p	CLIP-seq
MIRT1359993	hsa-miR-3173-5p	CLIP-seq
MIRT1359994	hsa-miR-3183	CLIP-seq
MIRT1359995	hsa-miR-4254	CLIP-seq
MIRT1359996	hsa-miR-4287	CLIP-seq
MIRT1359997	hsa-miR-4292	CLIP-seq
MIRT1359998	hsa-miR-4308	CLIP-seq
MIRT1359999	hsa-miR-4469	CLIP-seq
MIRT1360000	hsa-miR-4529-3p	CLIP-seq
MIRT1360001	hsa-miR-4685-3p	CLIP-seq
MIRT1360002	hsa-miR-4723-3p	CLIP-seq
MIRT1360003	hsa-miR-4725-5p	CLIP-seq
MIRT1360004	hsa-miR-4786-5p	CLIP-seq
MIRT1360005	hsa-miR-504	CLIP-seq
MIRT1360006	hsa-miR-548q	CLIP-seq
MIRT1360007	hsa-miR-670	CLIP-seq
MIRT1360008	hsa-miR-769-5p	CLIP-seq
MIRT1360009	hsa-miR-874	CLIP-seq
MIRT1360010	hsa-miR-1912	CLIP-seq
MIRT1360011	hsa-miR-1915	CLIP-seq
MIRT1360012	hsa-miR-3130-5p	CLIP-seq
MIRT1360013	hsa-miR-4269	CLIP-seq
MIRT1360014	hsa-miR-4482	CLIP-seq
MIRT1360015	hsa-miR-4751	CLIP-seq
MIRT1360016	hsa-miR-487a	CLIP-seq
MIRT1360017	hsa-miR-492	CLIP-seq
MIRT2394724	hsa-miR-2355-5p	CLIP-seq
MIRT1359992	hsa-miR-3160-5p	CLIP-seq
MIRT2394725	hsa-miR-3679-3p	CLIP-seq
MIRT1359987	hsa-miR-1269	CLIP-seq
MIRT1359988	hsa-miR-1269b	CLIP-seq
MIRT1359991	hsa-miR-3152-5p	CLIP-seq
MIRT1359994	hsa-miR-3183	CLIP-seq
MIRT1359996	hsa-miR-4287	CLIP-seq
MIRT1359997	hsa-miR-4292	CLIP-seq
MIRT1359998	hsa-miR-4308	CLIP-seq
MIRT1359999	hsa-miR-4469	CLIP-seq
MIRT1360000	hsa-miR-4529-3p	CLIP-seq
MIRT1360001	hsa-miR-4685-3p	CLIP-seq
MIRT1360002	hsa-miR-4723-3p	CLIP-seq
MIRT1360006	hsa-miR-548q	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001822	Process	Kidney development	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	IBA
GO:0005436	Function	Sodium:phosphate symporter activity	IDA	8327470, 8898024, 9530108
GO:0005436	Function	Sodium:phosphate symporter activity	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	IMP	12324554, 20335586, 26047794
GO:0005436	Function	Sodium:phosphate symporter activity	TAS
GO:0005515	Function	Protein binding	IPI	17895247, 22506049
GO:0005654	Component	Nucleoplasm	IDA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	26047794
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	20335586
GO:0005886	Component	Plasma membrane	NAS	8327470
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006817	Process	Phosphate ion transport	IDA	8327470, 8898024, 9530108
GO:0007584	Process	Response to nutrient	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010288	Process	Response to lead ion	IDA	8898024
GO:0015293	Function	Symporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016036	Process	Cellular response to phosphate starvation	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	26047794
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030643	Process	Intracellular phosphate ion homeostasis	IBA
GO:0031526	Component	Brush border membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031526	Component	Brush border membrane	NAS	8693007
GO:0031982	Component	Vesicle	IBA
GO:0032026	Process	Response to magnesium ion	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0035435	Process	Phosphate ion transmembrane transport	IEA
GO:0035864	Process	Response to potassium ion	IEA
GO:0042431	Process	Indole metabolic process	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0044341	Process	Sodium-dependent phosphate transport	IBA
GO:0044341	Process	Sodium-dependent phosphate transport	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045838	Process	Positive regulation of membrane potential	IEA
GO:0046686	Process	Response to cadmium ion	IDA	8898024
GO:0046689	Process	Response to mercury ion	IDA	8898024
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0055062	Process	Phosphate ion homeostasis	IDA	8327470, 8898024, 9530108
GO:0060416	Process	Response to growth hormone	IEA
GO:0071107	Process	Response to parathyroid hormone	IEA
GO:0071248	Process	Cellular response to metal ion	IEA
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IEA
GO:0072350	Process	Tricarboxylic acid metabolic process	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:0072734	Process	Cellular response to staurosporine	IEA
GO:0097066	Process	Response to thyroid hormone	IEA
GO:0097187	Process	Dentinogenesis	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	IEA
GO:1901128	Process	Gentamycin metabolic process	IEA
GO:1901652	Process	Response to peptide	IEA
GO:1901684	Process	Arsenate ion transmembrane transport	IEA
GO:2000120	Process	Positive regulation of sodium-dependent phosphate transport	IEA
GO:2000187	Process	Positive regulation of phosphate transmembrane transport	IEA

Other IDs

• MIM: 182309
• HGNC: 11019
• e!Ensembl: ENSG00000131183

Protein

• UniProt ID: Q06495
• Protein name: Sodium-dependent phosphate transport protein 2A (Sodium-phosphate transport protein 2A) (Na(+)-dependent phosphate cotransporter 2A) (NaPi-3) (Sodium/phosphate cotransporter 2A) (Na(+)/Pi cotransporter 2A) (NaPi-2a) (Solute carrier family 34 member 1)
• Protein function: Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:12324554, PubMed:20335586, PubMed:26047794, PubMed:8327470). The cotransport has a Na(+):Pi stoichiometry of 3:1 and is elect
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02690	Na_Pi_cotrans	113 → 252	Na+/Pi-cotransporter	Family
  PF02690	Na_Pi_cotrans	361 → 551	Na+/Pi-cotransporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Kidney and lung. {ECO:0000269|PubMed:8327470}.
• Sequence:

  MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEH
  TCPCGEVLERHEPLPAKLALEEEQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDM
  LSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLVQSSSTSTSIIVSMVSSGLLE
  VSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDCFNWLSVLVLLPLEAA
  TGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHS
  LIQIWCHPDSLQAPTSMSRAEANSSQTLGNATMEKCNHIFVDTGLPDLAVGLILLAGSLV
  LLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWVTGYFAMVVGASMTFVVQSSS
  VFTSAITPLIGLGVISIERAYPLTLGSNIGTTTTAILAALASPREKLSSAFQIALCHFFF
  NISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQV
  MVGVGTPFGALLAFVVLINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCC
  ARPEPRSPPLPPRVFLEELPPATPSPRLALPAHHNATRL

• Sequence length: 639

Pathways

KEGG:

Parathyroid hormone synthesis, secretion and action
Mineral absorption

Reactome:

Type II Na+/Pi cotransporters
Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
Surfactant metabolism

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
Autosomal recessive infantile hypercalcemia	Likely pathogenic; Pathogenic	rs1426432774	RCV001195304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi renotubular syndrome 2	Likely pathogenic; Pathogenic	rs770557903, rs1174958403, rs2481014114, rs201304511, rs769409705, rs188409125, rs200893951, rs1426432774, rs777543926	RCV001843687 RCV005624498 RCV002466290 RCV005044463 RCV002500742 RCV005036835 RCV002481520 RCV002484062 RCV006249730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, infantile, 2	Pathogenic; Likely pathogenic	rs1174958403, rs201304511, rs769409705, rs200095793, rs876661338, rs757124444, rs188409125, rs200893951, rs1554095500, rs1426432774, rs777543926	RCV003326007 RCV000223675 RCV000223664 RCV000223671 RCV000223677 RCV000223665 RCV003152853 RCV005036835 RCV002481520 RCV000505687 RCV002484062 RCV001251504	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypophosphatemic nephrolithiasis/osteoporosis 1	Pathogenic; Likely pathogenic	rs1174958403, rs201304511, rs769409705, rs121918610, rs1272063335, rs188409125, rs2481008620, rs200893951, rs1554095568, rs1426432774, rs777543926	RCV005624498 RCV005044463 RCV002500742 RCV000013794 RCV004577630 RCV005036835 RCV003992018 RCV004787785 RCV000503372 RCV002484062 RCV006249730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrocalcinosis	Pathogenic	rs201304511	RCV000662327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Pathogenic	rs201304511	RCV000662327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type III	Likely pathogenic	rs1581634382	RCV000860017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC34A1-related disorder	Pathogenic; Likely pathogenic	rs201304511, rs769409705, rs200095793, rs1298448088	RCV004532819 RCV000778761 RCV005431563 RCV004554040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCULUS OF KIDNEY AND URETER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DE TONI-DEBRE-FANCONI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total lymphocyte count	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS AND/OR OSTEOPOROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS OR OSTEOPOROSIS	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA, INFANTILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCIURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS-OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis/osteoporosis, hypophosphatemic	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY FANCONI RENOTUBULAR SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY FANCONI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Fanconi syndrome	Fanconi syndrome	ORPHANET_DG	20335586		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	30227399		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypophosphatemic rickets	Hypophosphatemic Rickets	BEFREE	31096470		★☆☆☆☆ Found in Text Mining only
Autosomal recessive infantile hypercalcemia	Hypercalcemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bone Diseases Metabolic	Bone disease	Pubtator	38139117, 39461557	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	9560283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32461965	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36978048	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASDB_DG	20383146, 22479191		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29275531, 30227399, 30778553		★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	39461557	Associate	★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Hypophosphatemia With Nephrolithiasis Or Osteoporosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	40225330	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	18996815	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI RENOTUBULAR SYNDROME 1	Fanconi Syndrome	ORPHANET_DG	20335586		★☆☆☆☆ Found in Text Mining only
FANCONI RENOTUBULAR SYNDROME 2	Fanconi Syndrome	GENOMICS_ENGLAND_DG	20335586		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi Syndrome	Fanconi syndrome	Pubtator	29924459, 40225330	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Syndrome	Fanconi Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
GLYCOGEN STORAGE DISEASE Ic	Glycogen Storage Disease	BEFREE	15454393		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	21597970, 26047794, 29959532, 30227399, 31188746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	Pubtator	28470390, 39461557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	CTD_human_DG	9560283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia Infantile	Idiopathic infantile hypercalcemia	Pubtator	28304097, 28470390, 29924459, 34125233, 34721296	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia, Idiopathic, of Infancy	Hypercalcemia	ORPHANET_DG	26047794		★☆☆☆☆ Found in Text Mining only
Hypercalcemia, Infantile, 1	Hypercalcemia	ORPHANET_DG	26047794		★☆☆☆☆ Found in Text Mining only
Hypercalcemia, Infantile, 1	Hypercalcemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia, infantile, 2	Hypercalcemia	GENOMICS_ENGLAND_DG	20335586		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, infantile, 2	Hypercalcemia	UNIPROT_DG	26047794		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, infantile, 2	Hypercalcemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalcemia, infantile, 2	Hypercalcemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercalciuria	Hypercalciuria	Pubtator	18996815, 28470390, 32311027, 39461557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatemic Rickets Autosomal Dominant	Hypophosphatemic rickets	Pubtator	31096470, 32311027	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Hypophosphatemic rickets	Pubtator	16358214, 32311027	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	8691720		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	12674325, 18446382, 21597970, 23719187, 26272126, 29275531, 30227399, 30778725		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	20383146, 26831199, 31152163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25368255		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	11498730		★☆☆☆☆ Found in Text Mining only
Medullary nephrocalcinosis	Medullary nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	30227399		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	18996815	Associate	★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	9560283		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	12674325, 25050900, 30227399, 31789978		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	LHGDN	12674325		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	BEFREE	12674325, 18446382, 21597970, 23719187, 26272126, 29275531, 30227399, 30778725		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	Pubtator	22396660, 28893421, 32311027, 38139117	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1	Nephrolithiasis-Osteoporosis, Hypophosphatemic	UNIPROT_DG	12324554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1	Nephrolithiasis-Osteoporosis, Hypophosphatemic	GENOMICS_ENGLAND_DG	12324554, 20335586, 25050900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1	Nephrolithiasis-Osteoporosis, Hypophosphatemic	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1	Nephrolithiasis-Osteoporosis, Hypophosphatemic	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteomalacia	Osteomalacia	Pubtator	39461557	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	17976082, 30227399		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32216560, 39461557	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraparesis	Paraparesis	Pubtator	31096470	Associate	★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Fanconi renotubular syndrome	Fanconi Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	18446382		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	39461557	Associate	★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets Hypophosphatemic	Hypophosphatemic rickets	Pubtator	32311027	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	34668383	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	27539983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	28304097		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	28470390, 40225330	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	8691720		★☆☆☆☆ Found in Text Mining only