TRPC3 (transient receptor potential cation channel subfamily C member 3)

Gene

• Entrez ID: 7222
• Gene name: Transient receptor potential cation channel subfamily C member 3
• Gene symbol: TRPC3
• Synonyms (NCBI Gene): SCA41, TRP3
• Disease Acronyms (UniProt): SCA41
• Chromosome: 4
• Chromosome location: 4q27
• Summary: The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol se

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142339351	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020161	hsa-miR-130b-3p	Sequencing	20371350
MIRT024166	hsa-miR-221-3p	Sequencing	20371350
MIRT026076	hsa-miR-196a-5p	Sequencing	20371350
MIRT031132	hsa-miR-19b-3p	Sequencing	20371350
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT675932	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT675931	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT553353	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031132	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT553352	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT020161	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT553351	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT553350	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT553349	hsa-miR-3666	PAR-CLIP	20371350
MIRT553348	hsa-miR-4295	PAR-CLIP	20371350
MIRT553347	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT553346	hsa-miR-5684	PAR-CLIP	20371350
MIRT553345	hsa-miR-576-3p	PAR-CLIP	20371350
MIRT026076	hsa-miR-196a-5p	PAR-CLIP	20371350
MIRT553344	hsa-miR-196b-5p	PAR-CLIP	20371350
MIRT553343	hsa-miR-4491	PAR-CLIP	20371350
MIRT553342	hsa-miR-4657	PAR-CLIP	20371350
MIRT553341	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT553339	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT553338	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT553337	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT553336	hsa-miR-527	PAR-CLIP	20371350
MIRT553353	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031132	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT553352	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020161	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT553351	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT553350	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT553349	hsa-miR-3666	PAR-CLIP	21572407
MIRT553348	hsa-miR-4295	PAR-CLIP	21572407
MIRT553347	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT553346	hsa-miR-5684	PAR-CLIP	21572407
MIRT553345	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT026076	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT553344	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT553343	hsa-miR-4491	PAR-CLIP	21572407
MIRT553342	hsa-miR-4657	PAR-CLIP	21572407
MIRT553341	hsa-miR-4653-3p	PAR-CLIP	21572407
MIRT553340	hsa-miR-4470	PAR-CLIP	21572407
MIRT553339	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT553338	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT553337	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT553336	hsa-miR-527	PAR-CLIP	21572407
MIRT553347	hsa-miR-454-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33732296
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT675932	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT675931	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT611905	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611904	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611903	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611902	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611901	hsa-miR-548z	HITS-CLIP	23824327
MIRT611900	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT611899	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT611898	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT553353	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031132	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT553352	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT020161	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT553351	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT553350	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT553349	hsa-miR-3666	PAR-CLIP	20371350
MIRT553348	hsa-miR-4295	PAR-CLIP	20371350
MIRT553347	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT553346	hsa-miR-5684	PAR-CLIP	20371350
MIRT553345	hsa-miR-576-3p	PAR-CLIP	20371350
MIRT026076	hsa-miR-196a-5p	PAR-CLIP	20371350
MIRT553344	hsa-miR-196b-5p	PAR-CLIP	20371350
MIRT553343	hsa-miR-4491	PAR-CLIP	20371350
MIRT553342	hsa-miR-4657	PAR-CLIP	20371350
MIRT553341	hsa-miR-4653-3p	PAR-CLIP	20371350
MIRT553339	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT553338	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT553337	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT553336	hsa-miR-527	PAR-CLIP	20371350
MIRT553353	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031132	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT553352	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020161	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT553351	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT553350	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT553349	hsa-miR-3666	PAR-CLIP	21572407
MIRT553348	hsa-miR-4295	PAR-CLIP	21572407
MIRT553347	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT553346	hsa-miR-5684	PAR-CLIP	21572407
MIRT553345	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT026076	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT553344	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT553343	hsa-miR-4491	PAR-CLIP	21572407
MIRT553342	hsa-miR-4657	PAR-CLIP	21572407
MIRT553341	hsa-miR-4653-3p	PAR-CLIP	21572407
MIRT553340	hsa-miR-4470	PAR-CLIP	21572407
MIRT553339	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT553338	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT553337	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT553336	hsa-miR-527	PAR-CLIP	21572407
MIRT1457233	hsa-miR-330-3p	CLIP-seq
MIRT1457234	hsa-miR-339-5p	CLIP-seq
MIRT1457235	hsa-miR-34a	CLIP-seq
MIRT1457236	hsa-miR-34c-5p	CLIP-seq
MIRT1457237	hsa-miR-3617	CLIP-seq
MIRT1457238	hsa-miR-4281	CLIP-seq
MIRT1457239	hsa-miR-449a	CLIP-seq
MIRT1457240	hsa-miR-449b	CLIP-seq
MIRT1457241	hsa-miR-641	CLIP-seq
MIRT1457233	hsa-miR-330-3p	CLIP-seq
MIRT2137086	hsa-miR-4252	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005262	Function	Calcium channel activity	TAS	9930701
GO:0005515	Function	Protein binding	IPI	10611319, 15744307, 15757897, 17360584, 20095964
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	9368034
GO:0006816	Process	Calcium ion transport	TAS	9215637
GO:0006828	Process	Manganese ion transport	IBA	21873635
GO:0007338	Process	Single fertilization	IBA	21873635
GO:0007602	Process	Phototransduction	TAS	9215637
GO:0010524	Process	Positive regulation of calcium ion transport into cytosol	IDA	21062895
GO:0015279	Function	Store-operated calcium channel activity	IBA	21873635
GO:0030168	Process	Platelet activation	TAS
GO:0033198	Process	Response to ATP	IDA	21062895
GO:0034703	Component	Cation channel complex	IBA	21873635
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA	21873635
GO:0051592	Process	Response to calcium ion	IDA	21062895
GO:0070588	Process	Calcium ion transmembrane transport	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IDA	21062895
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA	21873635
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IDA	14505576
GO:1903244	Process	Positive regulation of cardiac muscle hypertrophy in response to stress	IDA	19287093

Other IDs

• MIM: 602345
• HGNC: 12335
• e!Ensembl: ENSG00000138741

Protein

• UniProt ID: Q13507
• Protein name: Short transient receptor potential channel 3 (TrpC3) (Transient receptor protein 3) (TRP-3) (hTrp-3) (hTrp3)
• Protein function: Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:29726814, PubMed:30139744, PubMed:35051376, PubMed:9417057, PubMed:9930701, PubMed:10611319). {ECO:0000269|PubMed:10611319, ECO:0000269|PubMed:29726814, ECO:0000269
• PDB: 5ZBG, 6CUD, 6D7L, 6DJS, 7DXB, 7DXC, 7DXD, 7DXE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08344	TRP_2	182 → 244	Transient receptor ion channel II	Family
  PF00520	Ion_trans	372 → 670	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in brain and at much lower levels in ovary, colon, small intestine, lung, prostate, placenta and testis.
• Sequence:

  MREKGRRQAVRGPAFMFNDRGTSLTAEEERFLDAAEYGNIPVVRKMLEESKTLNVNCVDY
  MGQNALQLAVGNEHLEVTELLLKKENLARIGDALLLAISKGYVRIVEAILNHPGFAASKR
  LTLSPCEQELQDDDFYAYDEDGTRFSPDITPIILAAHCQKYEVVHMLLMKGARIERPHDY
  FCKCGDCMEKQRHDSFSHSRSRINAYKGLASPAYLSLSSEDPVLTALELSNELAKLANIE
  KEFKNDYRKLSMQCKDFVVGVLDLCRDSEEVEAILNGDLESAEPLEVHRHKASLSRVKLA
  IKYEVKKFVAHPNCQQQLLTIWYENLSGLREQTIAIKCLVVLVVALGLPFLAIGYWIAPC
  SRLGKILRSPFMKFVAHAASFIIFLGLLVFNASDRFEGITTLPNITVTDYPKQIFRVKTT
  QFTWTEMLIMVWVLGMMWSECKELWLEGPREYILQLWNVLDFGMLSIFIAAFTARFLAFL
  QATKAQQYVDSYVQESDLSEVTLPPEIQYFTYARDKWLPSDPQIISEGLYAIAVVLSFSR
  IAYILPANESFGPLQISLGRTVKDIFKFMVLFIMVFFAFMIGMFILYSYYLGAKVNAAFT
  TVEESFKTLFWSIFGLSEVTSVVLKYDHKFIENIGYVLYGIYNVTMVVVLLNMLIAMINS
  SYQEIEDDSDVEWKFARSKLWLSYFDDGKTLPPPFSLVPSPKSFVYFIMRIVNFPKCRRR
  RLQKDIEMGMGNSKSRLNLFTQSNSRVFESHSFNSILNQPTRYQQIMKRLIKRYVLKAQV
  DKENDEVNEGELKEIKQDISSLRYELLEDKSQATEELAILIHKLSEKLNPSMLRCE

• Sequence length: 836

Pathways

KEGG:

Axon guidance
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases

Reactome:

Effects of PIP2 hydrolysis
Elevation of cytosolic Ca2+ levels
TRP channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA 41, Spinocerebellar ataxia type 41	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	25477146
Hypertension	Hypertensive disease	rs13306026	17351372

Unknown
Disease term	Disease name	Evidence	References	Source
Spinocerebellar Ataxia	spinocerebellar ataxia type 41			GenCC
Asthma	Asthma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	36809524
Asthma	Associate	16574942, 27317689
Ataxia	Associate	21931279
Atrial Fibrillation	Associate	28839241
Breast Neoplasms	Associate	22692672
Carcinogenesis	Associate	35870973
Carcinoma Non Small Cell Lung	Associate	23840757
Carcinoma Ovarian Epithelial	Associate	32087757
Cardiomegaly	Associate	21931279
Cerebellar Ataxia	Associate	21931279
Colorectal Neoplasms	Associate	35870973
Diabetes Gestational	Associate	27573367, 35909537
Endometriosis	Associate	39689787
Essential Hypertension	Associate	22438881
Familial Primary Pulmonary Hypertension	Stimulate	15358862
Glioma	Associate	18211288
Glioma	Stimulate	39189437
Hypertension	Associate	19136933, 21957871, 30139744
Hypertension Malignant	Stimulate	19136933
Hypoxia Brain	Associate	21957871
Inflammation	Associate	16574942, 23899746
Intracranial Hemorrhage Hypertensive	Inhibit	21957871
Lung Neoplasms	Associate	23840757
Memory Disorders	Associate	30139744
Neoplasms	Associate	35870973
Neurodegenerative Diseases	Associate	30139744
Neurologic Manifestations	Associate	30139744
Ovarian Neoplasms	Associate	23580589, 32087757
Prostatic Neoplasms	Associate	12724346
Pulmonary Disease Chronic Obstructive	Associate	16574942
Triple Negative Breast Neoplasms	Associate	35216080