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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6575
Gene name	Solute carrier family 20 member 2
Gene symbol	SLC20A2
Synonyms (NCBI Gene)	GLVR-2GLVR2IBGC1IBGC2IBGC3MLVARPIT-2PIT2RAM1Ram-1
Chromosome	8
Chromosome location	8p11.21
Summary	This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protei

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs116122164	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906652	G>A,C	Pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs387906653	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs387906654	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122395	A>-	Pathogenic	Coding sequence variant, stop gained
rs398122396	GGAG>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs398122397	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs751093906	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant
rs886041397	G>C	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, coding sequence variant
rs886041752	G>T	Pathogenic	Stop gained, coding sequence variant
rs1064795684	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1554546372	C>T	Likely-pathogenic	Splice acceptor variant
rs1554546830	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554557554	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554561099	C>T	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1554561128	->AAAG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1563431044	C>T	Likely-pathogenic	Splice acceptor variant
rs1563452322	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563452873	G>A	Pathogenic	Coding sequence variant, stop gained
rs1563452941	C>A	Pathogenic	Coding sequence variant, stop gained
rs1563453866	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1563490467	C>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1563497714	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1563497719	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1563498184	C>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1586022262	C>T	Pathogenic	Coding sequence variant, missense variant
rs1586025869	T>C	Pathogenic	Splice acceptor variant
rs1586110761	A>T	Likely-pathogenic	Coding sequence variant, stop gained

192

Show/Hide all (192)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036941	hsa-miR-877-3p	CLASH	23622248
MIRT439618	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439618	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1354255	hsa-miR-103a	CLIP-seq
MIRT1354256	hsa-miR-107	CLIP-seq
MIRT1354257	hsa-miR-1207-3p	CLIP-seq
MIRT1354258	hsa-miR-1272	CLIP-seq
MIRT1354259	hsa-miR-1301	CLIP-seq
MIRT1354260	hsa-miR-144	CLIP-seq
MIRT1354261	hsa-miR-15a	CLIP-seq
MIRT1354262	hsa-miR-15b	CLIP-seq
MIRT1354263	hsa-miR-16	CLIP-seq
MIRT1354264	hsa-miR-195	CLIP-seq
MIRT1354265	hsa-miR-3163	CLIP-seq
MIRT1354266	hsa-miR-3185	CLIP-seq
MIRT1354267	hsa-miR-3682-3p	CLIP-seq
MIRT1354268	hsa-miR-383	CLIP-seq
MIRT1354269	hsa-miR-3908	CLIP-seq
MIRT1354270	hsa-miR-3941	CLIP-seq
MIRT1354271	hsa-miR-424	CLIP-seq
MIRT1354272	hsa-miR-4276	CLIP-seq
MIRT1354273	hsa-miR-4282	CLIP-seq
MIRT1354274	hsa-miR-4310	CLIP-seq
MIRT1354275	hsa-miR-4328	CLIP-seq
MIRT1354276	hsa-miR-4524	CLIP-seq
MIRT1354277	hsa-miR-466	CLIP-seq
MIRT1354278	hsa-miR-4660	CLIP-seq
MIRT1354279	hsa-miR-4672	CLIP-seq
MIRT1354280	hsa-miR-4699-3p	CLIP-seq
MIRT1354281	hsa-miR-4731-3p	CLIP-seq
MIRT1354282	hsa-miR-4762-5p	CLIP-seq
MIRT1354283	hsa-miR-4772-5p	CLIP-seq
MIRT1354284	hsa-miR-4801	CLIP-seq
MIRT1354285	hsa-miR-497	CLIP-seq
MIRT1354286	hsa-miR-503	CLIP-seq
MIRT1354287	hsa-miR-5047	CLIP-seq
MIRT1354288	hsa-miR-520d-5p	CLIP-seq
MIRT1354289	hsa-miR-524-5p	CLIP-seq
MIRT1354290	hsa-miR-548c-3p	CLIP-seq
MIRT1354291	hsa-miR-582-5p	CLIP-seq
MIRT1354292	hsa-miR-587	CLIP-seq
MIRT1354293	hsa-miR-590-3p	CLIP-seq
MIRT1354294	hsa-miR-646	CLIP-seq
MIRT1354295	hsa-miR-656	CLIP-seq
MIRT1354296	hsa-miR-7	CLIP-seq
MIRT2104793	hsa-miR-147b	CLIP-seq
MIRT2104794	hsa-miR-197	CLIP-seq
MIRT2104795	hsa-miR-3074-3p	CLIP-seq
MIRT2104796	hsa-miR-3130-3p	CLIP-seq
MIRT2104797	hsa-miR-3145-3p	CLIP-seq
MIRT2104798	hsa-miR-3155	CLIP-seq
MIRT2104799	hsa-miR-3155b	CLIP-seq
MIRT2104800	hsa-miR-3613-3p	CLIP-seq
MIRT2104801	hsa-miR-374c	CLIP-seq
MIRT2104802	hsa-miR-3921	CLIP-seq
MIRT2104803	hsa-miR-3924	CLIP-seq
MIRT2104804	hsa-miR-410	CLIP-seq
MIRT2104805	hsa-miR-4302	CLIP-seq
MIRT2104806	hsa-miR-4528	CLIP-seq
MIRT2104807	hsa-miR-455-5p	CLIP-seq
MIRT2104808	hsa-miR-4653-5p	CLIP-seq
MIRT2104809	hsa-miR-4659a-5p	CLIP-seq
MIRT2104810	hsa-miR-4659b-5p	CLIP-seq
MIRT2104811	hsa-miR-4695-3p	CLIP-seq
MIRT2104812	hsa-miR-4776-3p	CLIP-seq
MIRT2104813	hsa-miR-4795-3p	CLIP-seq
MIRT2104814	hsa-miR-484	CLIP-seq
MIRT2104815	hsa-miR-655	CLIP-seq
MIRT2104816	hsa-miR-767-5p	CLIP-seq
MIRT2104817	hsa-miR-889	CLIP-seq
MIRT1354260	hsa-miR-144	CLIP-seq
MIRT2329421	hsa-miR-1470	CLIP-seq
MIRT2329422	hsa-miR-150	CLIP-seq
MIRT2329423	hsa-miR-155	CLIP-seq
MIRT2329424	hsa-miR-188-3p	CLIP-seq
MIRT2104794	hsa-miR-197	CLIP-seq
MIRT2329425	hsa-miR-203	CLIP-seq
MIRT2104795	hsa-miR-3074-3p	CLIP-seq
MIRT2329426	hsa-miR-3145-5p	CLIP-seq
MIRT2104798	hsa-miR-3155	CLIP-seq
MIRT2104799	hsa-miR-3155b	CLIP-seq
MIRT2104800	hsa-miR-3613-3p	CLIP-seq
MIRT2104801	hsa-miR-374c	CLIP-seq
MIRT2104803	hsa-miR-3924	CLIP-seq
MIRT2329427	hsa-miR-4307	CLIP-seq
MIRT2329428	hsa-miR-4469	CLIP-seq
MIRT2329429	hsa-miR-4667-3p	CLIP-seq
MIRT1354279	hsa-miR-4672	CLIP-seq
MIRT2329430	hsa-miR-4691-5p	CLIP-seq
MIRT2104811	hsa-miR-4695-3p	CLIP-seq
MIRT2329431	hsa-miR-4713-5p	CLIP-seq
MIRT1354282	hsa-miR-4762-5p	CLIP-seq
MIRT2104813	hsa-miR-4795-3p	CLIP-seq
MIRT2104814	hsa-miR-484	CLIP-seq
MIRT2329432	hsa-miR-617	CLIP-seq
MIRT2329433	hsa-miR-627	CLIP-seq
MIRT2329434	hsa-miR-642a	CLIP-seq
MIRT2329435	hsa-miR-645	CLIP-seq
MIRT2104815	hsa-miR-655	CLIP-seq
MIRT1354295	hsa-miR-656	CLIP-seq
MIRT2329436	hsa-miR-924	CLIP-seq
MIRT2394631	hsa-miR-1265	CLIP-seq
MIRT2104793	hsa-miR-147b	CLIP-seq
MIRT2394632	hsa-miR-297	CLIP-seq
MIRT2394633	hsa-miR-4300	CLIP-seq
MIRT2104807	hsa-miR-455-5p	CLIP-seq
MIRT2394634	hsa-miR-4764-5p	CLIP-seq
MIRT2394635	hsa-miR-541	CLIP-seq
MIRT2394636	hsa-miR-567	CLIP-seq
MIRT2394637	hsa-miR-654-5p	CLIP-seq
MIRT2394638	hsa-miR-920	CLIP-seq
MIRT2104803	hsa-miR-3924	CLIP-seq
MIRT1354279	hsa-miR-4672	CLIP-seq
MIRT2623697	hsa-miR-1184	CLIP-seq
MIRT2623698	hsa-miR-1205	CLIP-seq
MIRT2623699	hsa-miR-1293	CLIP-seq
MIRT2623700	hsa-miR-142-3p	CLIP-seq
MIRT2623701	hsa-miR-1909	CLIP-seq
MIRT2623702	hsa-miR-1914	CLIP-seq
MIRT2623703	hsa-miR-2276	CLIP-seq
MIRT2623704	hsa-miR-3157-5p	CLIP-seq
MIRT2623705	hsa-miR-3158-5p	CLIP-seq
MIRT2623706	hsa-miR-342-5p	CLIP-seq
MIRT2623707	hsa-miR-3664-5p	CLIP-seq
MIRT2623708	hsa-miR-378	CLIP-seq
MIRT2623709	hsa-miR-378b	CLIP-seq
MIRT2623710	hsa-miR-378c	CLIP-seq
MIRT2623711	hsa-miR-378d	CLIP-seq
MIRT2623712	hsa-miR-378e	CLIP-seq
MIRT2623713	hsa-miR-378f	CLIP-seq
MIRT2623714	hsa-miR-378h	CLIP-seq
MIRT2623715	hsa-miR-378i	CLIP-seq
MIRT2623716	hsa-miR-422a	CLIP-seq
MIRT2623717	hsa-miR-4252	CLIP-seq
MIRT2623718	hsa-miR-4423-5p	CLIP-seq
MIRT2623719	hsa-miR-4455	CLIP-seq
MIRT2623720	hsa-miR-4473	CLIP-seq
MIRT2623721	hsa-miR-4483	CLIP-seq
MIRT2623722	hsa-miR-4502	CLIP-seq
MIRT2623723	hsa-miR-450b-3p	CLIP-seq
MIRT2623724	hsa-miR-4522	CLIP-seq
MIRT2623725	hsa-miR-4638-3p	CLIP-seq
MIRT2623726	hsa-miR-4651	CLIP-seq
MIRT2623727	hsa-miR-4654	CLIP-seq
MIRT2623728	hsa-miR-4664-5p	CLIP-seq
MIRT2623729	hsa-miR-4667-5p	CLIP-seq
MIRT2623730	hsa-miR-4684-5p	CLIP-seq
MIRT2623731	hsa-miR-4691-3p	CLIP-seq
MIRT2623732	hsa-miR-4700-5p	CLIP-seq
MIRT2623733	hsa-miR-4708-3p	CLIP-seq
MIRT2623734	hsa-miR-4713-3p	CLIP-seq
MIRT2623735	hsa-miR-4714-5p	CLIP-seq
MIRT2623736	hsa-miR-4717-5p	CLIP-seq
MIRT2623737	hsa-miR-4753-5p	CLIP-seq
MIRT2623738	hsa-miR-4761-5p	CLIP-seq
MIRT2623739	hsa-miR-4769-5p	CLIP-seq
MIRT2623740	hsa-miR-489	CLIP-seq
MIRT2623741	hsa-miR-512-3p	CLIP-seq
MIRT2623742	hsa-miR-520f	CLIP-seq
MIRT2623743	hsa-miR-608	CLIP-seq
MIRT2623744	hsa-miR-637	CLIP-seq
MIRT2623745	hsa-miR-638	CLIP-seq
MIRT2623746	hsa-miR-769-3p	CLIP-seq
MIRT2623700	hsa-miR-142-3p	CLIP-seq
MIRT2623702	hsa-miR-1914	CLIP-seq
MIRT2623703	hsa-miR-2276	CLIP-seq
MIRT2623704	hsa-miR-3157-5p	CLIP-seq
MIRT2623707	hsa-miR-3664-5p	CLIP-seq
MIRT2623708	hsa-miR-378	CLIP-seq
MIRT2623709	hsa-miR-378b	CLIP-seq
MIRT2623710	hsa-miR-378c	CLIP-seq
MIRT2623711	hsa-miR-378d	CLIP-seq
MIRT2623712	hsa-miR-378e	CLIP-seq
MIRT2623713	hsa-miR-378f	CLIP-seq
MIRT2623714	hsa-miR-378h	CLIP-seq
MIRT2623715	hsa-miR-378i	CLIP-seq
MIRT2623716	hsa-miR-422a	CLIP-seq
MIRT2623717	hsa-miR-4252	CLIP-seq
MIRT2623720	hsa-miR-4473	CLIP-seq
MIRT2623722	hsa-miR-4502	CLIP-seq
MIRT2623724	hsa-miR-4522	CLIP-seq
MIRT2623725	hsa-miR-4638-3p	CLIP-seq
MIRT2623730	hsa-miR-4684-5p	CLIP-seq
MIRT2623731	hsa-miR-4691-3p	CLIP-seq
MIRT2623733	hsa-miR-4708-3p	CLIP-seq
MIRT2623735	hsa-miR-4714-5p	CLIP-seq
MIRT2623736	hsa-miR-4717-5p	CLIP-seq
MIRT2623737	hsa-miR-4753-5p	CLIP-seq
MIRT2623738	hsa-miR-4761-5p	CLIP-seq
MIRT2623740	hsa-miR-489	CLIP-seq
MIRT2623741	hsa-miR-512-3p	CLIP-seq
MIRT2623742	hsa-miR-520f	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0001618	Function	Virus receptor activity	IMP	12205090, 15955065
GO:0005315	Function	Phosphate transmembrane transporter activity	IBA
GO:0005315	Function	Phosphate transmembrane transporter activity	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	IDA	17494632
GO:0005436	Function	Sodium:phosphate symporter activity	IEA
GO:0005436	Function	Sodium:phosphate symporter activity	IMP	12205090, 15955065, 16790504, 22327515, 28722801, 30704756
GO:0005436	Function	Sodium:phosphate symporter activity	TAS	8302848
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	28722801, 30704756
GO:0005886	Component	Plasma membrane	TAS	8302848
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006817	Process	Phosphate ion transport	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8302848
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0031526	Component	Brush border membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0035435	Process	Phosphate ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0038023	Function	Signaling receptor activity	TAS	8302848
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
158378	10947	ENSG00000168575

Q08357

Protein name

Sodium-dependent phosphate transporter 2 (Gibbon ape leukemia virus receptor 2) (GLVR-2) (Phosphate transporter 2) (PiT-2) (Pit2) (hPit2) (Solute carrier family 20 member 2)

Protein function

Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:12205090, PubMed:15955065, PubMed:16790504, PubMed:17494632, PubMed:22327515, PubMed:28

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01384	PHO4	24 → 637	Phosphate transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed.

Sequence

MAMDEYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETTGSV
LLGAKVGETIRKGIIDVNLYNETVETLMAGEVSAMVGSAVWQLIASFLRLPISGTHCIVG
STIGFSLVAIGTKGVQWMELVKIVASWFISPLLSGFMSGLLFVLIRIFILKKEDPVPNGL
RALPVFYAATIAINVFSIMYTGAPVLGLVLPMWAIALISFGVALLFAFFVWLFVCPWMRR
KITGKLQKEGALSRVSDESLSKVQEAESPVFKELPGAKANDDSTIPLTGAAGETLGTSEG
TSAGSHPRAAYGRALSMTHGSVKSPISNGTFGFDGHTRSDGHVYHTVHKDSGLYKDLLHK
IHIDRGPEEKPAQESNYRLLRRNNSYTCYTAAICGLPVHATFRAADSSAPEDSEKLVGDT
VSYSKKRLRYDSYSSYCNAVAEAEIEAEEGGVEMKLASELADPDQPREDPAEEEKEEKDA
PEVHLLFHFLQVLTACFGSFAHGGNDVSNAIGPLVALWLIYKQGGVTQEAATPVWLLFYG
GVGICTGLWVWGRRVIQTMGKDLTPITPSSGFTIELASAFTVVIASNIGLPVSTTHCKVG
SVVAVGWIRSRKAVDWRLFRNIFVAWFVTVPVAGLFSAAVMALLMYGILPYV

Sequence length

652

Interactions

View interactions

	Reactome
			Sodium-coupled phosphate cotransporters Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Idiopathic basal ganglia calcification 1	Likely pathogenic; Pathogenic	rs763252801, rs2131227624, rs2131192653, rs1052304545, rs2130905407, rs2131006903, rs2131228068, rs1234999465, rs2487096929, rs775911275, rs755252506, rs2487176728, rs2487624106, rs2131006757, rs398122395 View all (22 more)	RCV005420401 RCV005420410 RCV005420411 RCV005420417 RCV005420418 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC20A2-related disorder	Likely pathogenic; Pathogenic	rs1052304545, rs755252506, rs398122395, rs775911275, rs1554561099, rs398122396	RCV003416487 RCV003427487 RCV003409398 RCV003901186 RCV003409577 RCV004730869 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (24)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1	—	GenCC, HPO GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL STRIOPALLIDODENTATE CALCINOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHR'S DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHRS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (81)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	23437308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36759259	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37341843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal Ganglia Diseases	CTD_human_DG	25938945		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral striopallidodentate calcinosis	Bilateral Striopallidodentate Calcinosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	29133259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	23437308, 35850697, 36397039, 37341843	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	27184385	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28867681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23968976, 29551636, 30041812, 30243309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29351787, 29578123, 29955172, 31133547, 33893476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of ischium	Congenital Anomaly Of Ischium	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	28789611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23690474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22393163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37341843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29216956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	24135862, 31133547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	24135862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	32274582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26475232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32274582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	26475232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exostoses Multiple Hereditary	Exostoses	Pubtator	32705272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	CTD_human_DG	25938945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	10441584, 23334463, 23437308, 24135862, 27184385, 27245298, 28720798, 28935882, 29034894, 29351787, 29448117, 29578123, 29955172, 30776674, 31133547 View all (19 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fahr`s syndrome (disorder)	Fahr`s Syndrome	ORPHANET_DG	22327515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fahr`s syndrome (disorder)	Fahr`s Syndrome	GENOMICS_ENGLAND_DG	27726124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28720798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IB	Glycogen storage disease	Pubtator	40437060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	36206226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28935882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	26822507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic basal ganglia calcification 1	Basal Ganglia Calcification	BEFREE	11810290, 22327515, 22772876, 23334463, 23437308, 23576097, 25958344		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic basal ganglia calcification 1	Basal Ganglia Calcification	UNIPROT_DG	15955065, 22327515, 23334463, 23406454, 23939468, 24065723, 24463626, 25284758		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic basal ganglia calcification 1	Basal Ganglia Calcification	CTD_human_DG	22327515		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic basal ganglia calcification 1	Basal Ganglia Calcification	CLINVAR_DG	22327515		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic basal ganglia calcification 1	Basal Ganglia Calcification	GENOMICS_ENGLAND_DG	27726124		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic basal ganglia calcification childhood onset	Idiopathic basal ganglia calcification	Pubtator	23437308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29351787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	29351787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lenticulostriate Disorders	Lenticulostriate Disorders	CTD_human_DG	25938945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	32145757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	24201868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32705272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	24969325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	33793087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	29578123, 31133547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25292412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28720798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24135862	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30609140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15924306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22393163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29133259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30042500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22772876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	28935882, 29955172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28162874, 28935882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	BEFREE	24969325, 25211641, 25284758, 25726928, 25938945, 25958344, 26475232, 27230854, 27671522, 27726124, 28298627, 28578517, 28722801, 28766044, 28935882 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	15924306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	24969325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	26475232, 28162874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	37341843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	25938945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	30041812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24382701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	24969325		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC20A2 (solute carrier family 20 member 2)