CASR (calcium sensing receptor)

Gene

• Entrez ID: 846
• Gene name: Calcium sensing receptor
• Gene symbol: CASR
• Synonyms (NCBI Gene): CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1, hCasR
• Disease Acronyms (UniProt): EIG8, HHC1, HYPOC1, NSHPT
• Chromosome: 3
• Chromosome location: 3q13.33-q21.1
• Summary: The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936684	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs61733590	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs62269092	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs104893689	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893690	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893691	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893693	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs104893694	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893695	C>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893696	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893697	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893698	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893699	T>G	Pathogenic	Missense variant, coding sequence variant
rs104893700	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893701	T>G	Pathogenic	Missense variant, coding sequence variant
rs104893702	A>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs104893703	C>G	Pathogenic	Missense variant, coding sequence variant
rs104893704	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893705	C>A,G,T	Pathogenic, likely-benign	Stop gained, missense variant, synonymous variant, coding sequence variant
rs104893706	C>A	Pathogenic	Missense variant, coding sequence variant
rs104893707	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs104893708	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893709	G>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs104893710	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893711	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893712	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893716	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893717	T>C	Pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs104893718	T>A	Pathogenic	Missense variant, coding sequence variant
rs104893719	G>A	Pathogenic	Missense variant, coding sequence variant
rs115230894	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs121909258	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909259	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909260	A>C,G	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909261	G>T	Pathogenic	Missense variant, coding sequence variant
rs121909262	C>G,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121909263	C>T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909264	G>A	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909265	G>T	Pathogenic	Missense variant, coding sequence variant
rs121909266	C>T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909267	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121909268	T>G	Pathogenic	Missense variant, coding sequence variant
rs121909269	G>A	Risk-factor, uncertain-significance	Missense variant, coding sequence variant
rs140022350	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs142704083	G>A	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs142745096	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147307274	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs150412204	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs150869744	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs193922419	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922421	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922422	GTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922423	G>A	Pathogenic	Coding sequence variant, missense variant
rs193922424	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs193922425	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs193922426	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922427	GC>CT	Likely-pathogenic	Coding sequence variant, missense variant
rs193922429	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922430	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922431	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922432	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs193922433	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922435	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922436	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922437	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs193922439	A>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs193922442	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922444	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs199594582	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201091657	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201177696	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs201564143	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs201633414	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Synonymous variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs201851934	A>C,G	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs201852643	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201858689	G>T	Pathogenic	Coding sequence variant, missense variant
rs397514728	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs397514729	A>G	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs746515147	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs751217000	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs755277801	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs767363250	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs773146939	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794729230	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs797044441	G>T	Pathogenic	Splice acceptor variant, intron variant
rs869320729	CC>T	Pathogenic	Frameshift variant, coding sequence variant
rs886041154	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs886041537	C>G	Pathogenic	Missense variant, coding sequence variant
rs886041637	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041823	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1057517712	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518616	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518933	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520557	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057520583	T>G	Pathogenic	Missense variant, coding sequence variant
rs1057520646	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057520791	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1057521129	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523748	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1060502842	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060502847	CG>TT	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1060502855	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793353	G>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1064793992	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307984	C>A,G,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, synonymous variant, coding sequence variant
rs1131691620	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1202110240	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1276839362	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs1482119762	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, synonymous variant
rs1553731681	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553766262	C>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1553766768	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553766794	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553768726	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553768938	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553768972	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553769004	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553769059	G>CC,GG	Likely-pathogenic, benign	Frameshift variant, coding sequence variant
rs1553769169	CTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTT	Pathogenic	Inframe deletion, coding sequence variant
rs1559956508	G>TTCGCT	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559956616	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559956683	AGAGCACATTCCCTC>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant
rs1559959758	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559968729	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576854561	->TC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576857818	A>G	Likely-pathogenic	Splice acceptor variant
rs1576857840	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1576859379	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1576875835	G>A	Pathogenic	Missense variant, coding sequence variant
rs1576875919	G>T	Pathogenic	Splice donor variant
rs1576877163	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576877427	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576878011	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004597	hsa-miR-31-5p	LacZ assay	20145132
MIRT007298	hsa-miR-135b-5p	Western blot	23340180
MIRT007298	hsa-miR-135b-5p	Luciferase reporter assay	25320245
MIRT007298	hsa-miR-135b-5p	Immunofluorescence	26178670
MIRT864268	hsa-miR-134	CLIP-seq
MIRT864269	hsa-miR-2964a-5p	CLIP-seq
MIRT864270	hsa-miR-3118	CLIP-seq
MIRT864271	hsa-miR-3130-3p	CLIP-seq
MIRT864272	hsa-miR-3164	CLIP-seq
MIRT864273	hsa-miR-3650	CLIP-seq
MIRT864274	hsa-miR-3658	CLIP-seq
MIRT864275	hsa-miR-4426	CLIP-seq
MIRT864276	hsa-miR-4647	CLIP-seq
MIRT864277	hsa-miR-4662b	CLIP-seq
MIRT864278	hsa-miR-4729	CLIP-seq
MIRT864279	hsa-miR-4793-3p	CLIP-seq
MIRT864280	hsa-miR-516b	CLIP-seq
MIRT864281	hsa-miR-616	CLIP-seq
MIRT864282	hsa-miR-622	CLIP-seq
MIRT864283	hsa-miR-105	CLIP-seq
MIRT864284	hsa-miR-1262	CLIP-seq
MIRT864285	hsa-miR-140-3p	CLIP-seq
MIRT864286	hsa-miR-374c	CLIP-seq
MIRT864287	hsa-miR-4701-3p	CLIP-seq
MIRT864288	hsa-miR-514	CLIP-seq
MIRT864289	hsa-miR-514b-3p	CLIP-seq
MIRT864290	hsa-miR-655	CLIP-seq
MIRT864291	hsa-miR-661	CLIP-seq
MIRT864284	hsa-miR-1262	CLIP-seq
MIRT1956182	hsa-miR-1303	CLIP-seq
MIRT864286	hsa-miR-374c	CLIP-seq
MIRT1956183	hsa-miR-4474-3p	CLIP-seq
MIRT864287	hsa-miR-4701-3p	CLIP-seq
MIRT864290	hsa-miR-655	CLIP-seq
MIRT1956184	hsa-miR-670	CLIP-seq
MIRT2193833	hsa-miR-3690	CLIP-seq
MIRT2193834	hsa-miR-4254	CLIP-seq
MIRT2193835	hsa-miR-578	CLIP-seq
MIRT2193836	hsa-miR-581	CLIP-seq
MIRT1956184	hsa-miR-670	CLIP-seq
MIRT2427055	hsa-miR-3667-3p	CLIP-seq
MIRT2427056	hsa-miR-4279	CLIP-seq
MIRT2427057	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	21296416
GCM2	Activation	18712808

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	TAS	7874174
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004930	Function	G protein-coupled receptor activity	IDA	27434672
GO:0005178	Function	Integrin binding	IEA
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	27434672
GO:0005513	Process	Detection of calcium ion	IBA	21873635
GO:0005513	Process	Detection of calcium ion	IDA	27434672
GO:0005515	Function	Protein binding	IPI	20361938
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
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	8702647, 16740594, 17555508, 19789209, 22789683, 25104082, 25766501, 26386835
GO:0006874	Process	Cellular calcium ion homeostasis	IBA	21873635
GO:0006874	Process	Cellular calcium ion homeostasis	IDA	27434672
GO:0006915	Process	Apoptotic process	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	27434672
GO:0007186	Process	G protein-coupled receptor signaling pathway	IMP	8636323, 8702647, 8878438, 17555508, 19789209, 21566075, 22789683, 23169696, 23966241, 25104082, 25292184, 25766501, 26386835
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007254	Process	JNK cascade	IEA
GO:0007635	Process	Chemosensory behavior	TAS	7759551
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	7916660
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016597	Function	Amino acid binding	IDA	27434672
GO:0019901	Function	Protein kinase binding	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032781	Process	Positive regulation of ATPase activity	IEA
GO:0032782	Process	Bile acid secretion	IEA
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16740594, 27434672
GO:0043025	Component	Neuronal cell body	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0044325	Function	Ion channel binding	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050927	Process	Positive regulation of positive chemotaxis	IEA
GO:0051924	Process	Regulation of calcium ion transport	IBA	21873635
GO:0060613	Process	Fat pad development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070509	Process	Calcium ion import	IDA	20846291
GO:0071305	Process	Cellular response to vitamin D	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071774	Process	Response to fibroblast growth factor	IEA
GO:0090280	Process	Positive regulation of calcium ion import	IEA
GO:1901653	Process	Cellular response to peptide	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 601199
• HGNC: 1514
• e!Ensembl: ENSG00000036828

Protein

• UniProt ID: P41180
• Protein name: Extracellular calcium-sensing receptor (CaR) (CaSR) (hCasR) (Parathyroid cell calcium-sensing receptor 1) (PCaR1)
• Protein function: G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:22789683, PubMe
• PDB: 5FBH, 5FBK, 5K5S, 5K5T, 7DTT, 7DTU, 7DTV, 7DTW, 7E6T, 7E6U, 7M3E, 7M3F, 7M3G, 7M3J, 7SIL, 7SIM, 7SIN, 8SZF, 8SZG, 8SZH, 8SZI, 8WPG, 8WPU, 9ASB, 9AVG, 9AVL, 9AXF, 9AYF, 9C1P, 9C2F, 9J7I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	69 → 498	Receptor family ligand binding region	Family
  PF07562	NCD3G	538 → 591	Nine Cysteines Domain of family 3 GPCR	Family
  PF00003	7tm_3	624 → 859	7 transmembrane sweet-taste receptor of 3 GCPR	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta. {ECO:0000269|PubMed:18756473}.
• Sequence:

  MAFYSCCWVLLALTWHTSAYGPDQRAQKKGDIILGGLFPIHFGVAAKDQDLKSRPESVEC
  IRYNFRGFRWLQAMIFAIEEINSSPALLPNLTLGYRIFDTCNTVSKALEATLSFVAQNKI
  DSLNLDEFCNCSEHIPSTIAVVGATGSGVSTAVANLLGLFYIPQVSYASSSRLLSNKNQF
  KSFLRTIPNDEHQATAMADIIEYFRWNWVGTIAADDDYGRPGIEKFREEAEERDICIDFS
  ELISQYSDEEEIQHVVEVIQNSTAKVIVVFSSGPDLEPLIKEIVRRNITGKIWLASEAWA
  SSSLIAMPQYFHVVGGTIGFALKAGQIPGFREFLKKVHPRKSVHNGFAKEFWEETFNCHL
  QEGAKGPLPVDTFLRGHEESGDRFSNSSTAFRPLCTGDENISSVETPYIDYTHLRISYNV
  YLAVYSIAHALQDIYTCLPGRGLFTNGSCADIKKVEAWQVLKHLRHLNFTNNMGEQVTFD
  ECGDLVGNYSIINWHLSPEDGSIVFKEVGYYNVYAKKGERLFINEEKILWSGFSREVPFS
  NCSRDCLAGTRKGIIEGEPTCCFECVECPDGEYSDETDASACNKCPDDFWSNENHTSCIA
  KEIEFLSWTEPFGIALTLFAVLGIFLTAFVLGVFIKFRNTPIVKATNRELSYLLLFSLLC
  CFSSSLFFIGEPQDWTCRLRQPAFGISFVLCISCILVKTNRVLLVFEAKIPTSFHRKWWG
  LNLQFLLVFLCTFMQIVICVIWLYTAPPSSYRNQELEDEIIFITCHEGSLMALGFLIGYT
  CLLAAICFFFAFKSRKLPENFNEAKFITFSMLIFFIVWISFIPAYASTYGKFVSAVEVIA
  ILAASFGLLACIFFNKIYIILFKPSRNTIEEVRCSTAAHAFKVAARATLRRSNVSRKRSS
  SLGGSTGSTPSSSISSKSNSEDPFPQPERQKQQQPLALTQQEQQQQPLTLPQQQRSQQQP
  RCKQKVIFGSGTVTFSLSFDEPQKNAMAHRNSTHQNSLEAQKSSDTLTRHEPLLPLQCGE
  TDLDLTVQETGLQGPVGGDQRPEVEDPEELSPALVVSSSQSFVISGGGSTVTENVVNS

• Sequence length: 1078

Pathways

KEGG:

NOD-like receptor signaling pathway
Parathyroid hormone synthesis, secretion and action

Reactome:

G alpha (q) signalling events
G alpha (i) signalling events
Class C/3 (Metabotropic glutamate/pheromone receptors)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30718926
Epilepsy	Idiopathic generalized epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Hypocalciuric hypercalcemia	Familial benign hypercalcemia, Hypocalciuric hypercalcemia, familial, type 1, Hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia type 1	rs121909258, rs121909259, rs104893689, rs121909262, rs28936684, rs121909263, rs121909264, rs121909265, rs121909266, rs104893704, rs104893705, rs797044441, rs104893716, rs121909268, rs104893690, rs104893719, rs193922422, rs193922423, rs193922424, rs193922425, rs193922426, rs193922429, rs193922432, rs193922433, rs193922435, rs193922437, rs121909260, rs193922442, rs1553731681, rs672601249, rs587777019, rs794729230, rs769256610, rs886041154, rs1057518933, rs1057520791, rs1057520557, rs1060502855, rs767363250, rs1060502856, rs1202110240, rs1276839362, rs1576857840, rs1576875819, rs1576875835, rs761084315	23077345, 19389809, 8675635, 7726161, 1302026, 27666534, 17974727, 20798521, 22422767, 12095982, 7916660, 20972686, 17284438, 24947037, 1889203, 11763315, 8878438, 20164288, 26963950, 12114500, 16649980, 21521328, 10885494, 21239511, 12580936, 19759318, 17473068, 9011580, 28740527, 9395465, 15579740, 27390877, 15751724, 21643651, 16740594, 8636323, 22620673, 16642557, 19423559, 8702647, 26161261, 23966241, 22114145, 26386835, 27434672, 19789209, 17698911, 9298824, 11762699, 17048213, 791660, 15879434, 19179454, 22798347, 7717399, 21289269, 7673400, 25766501, 2983592, 25091521, 15241688, 23169696, 16598859, 25104082, 20034274, 18751724, 21566075, 15572418, 24203066, 25292184
Hereditary pancreatitis	Hereditary pancreatitis, Hereditary chronic pancreatitis	rs113993960, rs113993959, rs75527207, rs80034486, rs121909294, rs111033565, rs111033566, rs111033567, rs267606982, rs111033568, rs104893938, rs104893939, rs387906698, rs193922659, rs397507439, rs202003805, rs121908774, rs397508198, rs397508387, rs121909034, rs397508706, rs374705585, rs148954387, rs515726210, rs199769221, rs1805177, rs797045159, rs3034796, rs1060503164, rs1554382608, rs121909005, rs369503365, rs1554089895, rs1557508272, rs747905422, rs1562898489, rs1561606446, rs766917452, rs1570784592	26166472
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354	8702647, 9011580, 791660, 15751724
Hyperparathyroidism	Hyperparathyroidism, Hyperparathyroidism, Primary, HYPERPARATHYROIDISM, NEONATAL SEVERE, Familial Isolated Hyperparathyroidism, Neonatal severe primary hyperparathyroidism	rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170	9011580, 11589681, 17555508, 15572418, 17048213, 8675635, 28740527, 8878438, 22620673, 27434672, 14985373, 24854525, 9253359
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Hypocalcemia	HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, Autosomal dominant hypocalcemia, HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME	rs121909258, rs121909260, rs121909261, rs104893694, rs104893695, rs104893696, rs104893697, rs104893698, rs104893699, rs104893701, rs104893702, rs104893703, rs1553769169, rs104893706, rs104893710, rs104893711, rs104893712, rs104893718, rs140749796, rs587777021, rs587777022, rs397514728, rs587777707, rs886041637, rs201633414, rs1202110240	16608894, 8702647, 17048213, 22789683, 7874174, 28740527, 12733714, 9253358, 23169696, 23966241, 8733126, 8813042, 12107202, 15551332, 9920108, 19179454, 12574188, 9661634, 12241879, 8878438, 25766501, 12915654, 12050233, 10487661
Hypoparathyroidism	Hypoparathyroidism, Idiopathic Hypoparathyroidism, Hypoparathyroidism - autosomal dominant, Hypoparathyroidism familial isolated	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179	7726161, 11701698, 16642557, 12114500, 20164288, 17974727, 22798347, 21521328, 20972686, 17284438, 27434672, 26963950, 9395465, 25091521, 21645025, 1302026, 25766501, 20798521, 16649980, 8675635, 8878438, 9011580, 11134112, 10885494, 21289269, 26161261, 7916660, 1889203, 24203066, 15241688, 24947037, 21239511, 12095982, 19389809, 23966241, 24297799, 12580936, 18751724, 19759318, 22422767, 23077345, 11763315, 27666534, 20034274, 27390877, 19423559, 20119591
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Parathyroid adenoma	Parathyroid Adenoma	rs587776557
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25854761

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Mental depression	Depressive disorder			ClinVar
Pancreatitis	Pancreatitis, Pancreatitis, Chronic, Recurrent pancreatitis		16497624	ClinVar
Hypocalciuric Hypercalcemia	familial hypocalciuric hypercalcemia 1			GenCC
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Diabetes	Diabetes			GWAS
Asthma	Asthma			GWAS
Urolithiasis	Urolithiasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Associate	21288827
ACTH Secreting Pituitary Adenoma	Associate	35960046
Adenocarcinoma	Associate	25382680
Adenoma	Inhibit	32609827, 8995751
Adenomatous Polyposis Coli	Associate	17463182, 9920407
Alopecia	Associate	28741586
Alzheimer Disease	Associate	31640098
Arthritis Rheumatoid	Associate	25134967
Atherosclerosis	Associate	24101400, 25134967
Autoimmune polyendocrinopathy syndrome type 1	Associate	19837919
Bartter syndrome type 3	Associate	25506941
Bartter Syndrome Type 3 with Hypocalciuria	Associate	19789209, 27087013
Bites Human	Associate	8702647
Bone Diseases	Associate	18492387
Bone Diseases Metabolic	Associate	12040821
Breast Neoplasms	Associate	18492387, 24481145, 24584713, 25409930, 26650177, 28764683, 33845096, 37511437
Calcinosis	Associate	26436544, 30769016
Calcinosis Cutis	Associate	23533647, 27115058
Calcium Metabolism Disorders	Associate	25165186
Carcinogenesis	Associate	21317879, 28676564, 32609827
Carcinoma Renal Cell	Associate	24576174, 25382680, 29559845, 34449964
Cardiomyopathy Dilated	Associate	21471599
Cell Transformation Viral	Associate	26436544
Chromosome Aberrations	Associate	28263480
Colonic Neoplasms	Associate	16278666, 17557293, 18618519, 20648625, 21625458, 26076051
Colorectal Neoplasms	Associate	17463182, 18566015, 18618519, 18843020, 18980667, 20558521, 21084270, 22278364, 23555732, 26076051, 28676564, 28765616, 28856682, 30923017, 34576291
Colorectal Neoplasms	Inhibit	24691920
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	9920407
Coronary Artery Disease	Associate	25134967, 29763933
Deafness Autosomal Dominant 1	Associate	34160437
Death	Associate	23533647
Depression Postpartum	Associate	15005845
Diabetes Mellitus	Associate	25401741, 27510541
Diabetes Mellitus Type 2	Associate	24101400
Diabetic Nephropathies	Associate	25401741
Disease	Associate	25165186
Drug Related Side Effects and Adverse Reactions	Associate	18618519, 21317879
Dyslipidemias	Associate	31775661
Endometrial Neoplasms	Inhibit	29348629
Eosinophilic Esophagitis	Associate	20364112
Epilepsy Idiopathic Generalized	Associate	20798521
Familial benign hypercalcemia type 3	Associate	26082470, 29325022
Familial Hypophosphatemic Rickets	Associate	24553630, 25420019, 26994139, 32150253, 32386559
Fatigue	Associate	32871939
Fractures Bone	Associate	28630081
Genetic Diseases Inborn	Associate	20705733
Glycosuria Renal	Associate	17522693
Heart Arrest	Associate	30376845
Heart Failure	Associate	12733714
Hemolytic Uremic Syndrome	Associate	22166946
Homocystinuria	Associate	16278666, 17557293
Huntington Disease	Associate	29763933
Hyperandrogenism	Associate	30975191
Hypercalcemia	Associate	14641934, 19423460, 19789209, 25292184, 27087013, 29420171, 31778168, 32150253, 33771883, 35095753, 36638628, 37602721
Hypercalciuria	Associate	12239240, 12733714, 17332735, 17522693, 25292184, 25506941, 8813042, 9915958, 9920407
Hypercalciuria Absorptive 2	Associate	12239240
Hypercalciuric Hypocalcemia Familial	Associate	11089548, 12162500, 12733714, 15005845, 15591042, 19063686, 20119591, 23966241, 24042516, 24823460, 25506941, 28742508, 30496603, 8702647, 8813042
Hyperparathyroidism	Inhibit	11044218, 11703583, 36755240
Hyperparathyroidism	Associate	14985373, 19789209, 34111698, 34659108, 37810884, 8995751, 9507199
Hyperparathyroidism 1	Associate	14985373, 16995822, 22187299, 29036195
Hyperparathyroidism Neonatal Severe Primary	Associate	19389809, 20631026, 23077345, 25828954, 30376845, 31778168, 34111698, 34659108, 34887979, 35399047, 35848051, 35857775, 37246686, 7717399, 8675635, 8702647, 8878438, 9920407
Hyperparathyroidism Primary	Associate	12469911, 17018660, 18492387, 19423460, 27760455, 28222409, 30376845, 32761341, 35733207, 38130397, 8675635
Hyperparathyroidism Secondary	Associate	11044218, 19839774, 22166946, 23552627, 27468225, 27739473, 29763933, 34504264, 35140213, 36755240
Hyperplasia	Inhibit	8995751
Hypersensitivity Delayed	Stimulate	21288827
Hypertension	Associate	19066294
Hypoalphalipoproteinemias	Associate	8702647
Hypocalcemia	Associate	12733714, 19915295, 24042516, 29463778, 30020481, 32386559, 8813042
Hypocalcemia Autosomal Dominant with Bartter Syndrome	Associate	23802516, 24244430, 24708097, 27334330, 28742508, 29463778, 31063613, 32386559, 33112267
Hypocalciuric hypercalcemia familial type 1	Associate	12469911, 14641934, 16491288, 16642557, 16882283, 18525093, 19389809, 19423460, 19580466, 19789209, 20631026, 20697181, 20705733, 20798521, 20861236, 23077345, 23966241, 24121387, 24292865, 25292184, 25320261, 26082470, 26158657, 27087013, 28222409, 29115694, 29463778, 30052933, 31723423, 32150253, 32386559, 32761341, 32871939, 33094630, 34160437, 34556169, 34659108, 35095753, 35733207, 35857775, 36536367, 36638628, 37602721, 38130397, 39648754, 7717399, 8675635, 8702647, 8813042, 8878438, 9915958, 9920407
Hypocalciuric hypercalcemia familial type 2	Associate	24708097
Hypoparathyroidism	Associate	16983178, 19837919, 20119591, 21471599, 30137364, 30496603, 31433868, 33112267, 34193455, 8813042
Hypoparathyroidism familial isolated	Associate	24133354
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Associate	12239240, 17332735
Hypothyroidism	Associate	24292865
Hypoxia Brain	Associate	25847407
Immunologic Deficiency Syndromes	Associate	19915295
Infections	Associate	29763933
Inflammation	Associate	22449852, 24101400, 34576291, 35614177, 35931812, 36982291
Insulin Resistance	Associate	21082232
Insulinoma	Associate	29851790
Intellectual Disability	Associate	40225164
Kidney Calculi	Associate	12239240, 17018660, 17332735, 17522693, 21966463, 23864702, 26107257, 26272126, 36088585, 40372791
Kidney Diseases	Associate	25401741
Kidney Failure Chronic	Inhibit	11044218, 17537980
Kidney Failure Chronic	Associate	27739473, 29763933, 39624014
Latent Tuberculosis	Associate	38088554
Leukemia Myeloid Acute	Associate	35614177
Lymphatic Metastasis	Associate	24481145
Lymphoma Large B Cell Diffuse	Associate	25382680
Melanoma	Associate	11390379, 32241263
Mitochondrial Diseases	Associate	36982291
Multiple Endocrine Neoplasia Type 1	Associate	14985373
Multiple Pterygium Syndrome Autosomal Dominant	Associate	24042516, 30052933, 32513763, 8878438
Myeloproliferative Disorders	Associate	24292865
Myocardial Infarction	Associate	29763933
Myotonic Dystrophy	Associate	24101400
Neointima	Associate	35546405
Neoplasm Metastasis	Associate	18492387, 21240254, 23125333, 24576174, 27115058, 37511437
Neoplasm Metastasis	Inhibit	24584713
Neoplasms	Associate	18566015, 19350667, 20558521, 22144504, 26650177, 26865585, 27115058, 27537691, 28676564, 29348629, 33845096, 34165176, 37511437
Neoplasms	Inhibit	21317879, 24584713, 25090635, 26076051, 28856682
Neoplasms Adipose Tissue	Associate	22449852
Nephrolithiasis	Associate	12733714, 23864702, 27739473, 29763933, 30407299, 31754202, 34772415
Nephrolithiasis Calcium Oxalate	Associate	21966463, 23864702, 34772415
Nephrotic Syndrome	Associate	12469911
Neuroblastoma	Associate	19350667, 23533647
Obesity	Associate	22449852, 33076271, 35931812
Osteoarthritis Knee	Associate	35016442
Osteoporosis	Associate	16882283
Ovarian Diseases	Associate	30975191
Pancreatic Neoplasms	Associate	17078869, 23826131
Pancreatitis	Associate	14641934, 20798521, 37867141, 39172977
Pancreatitis Chronic	Associate	14641934, 18680227, 20798521, 32352720
Parathyroid Diseases	Associate	11044218, 12469911
Parathyroid Diseases	Inhibit	11703583
Parathyroid Neoplasms	Associate	10352095, 10713061, 18492387, 21240254, 22166946, 27872158, 32609827, 33670622, 34054720, 36611251, 37065733
Pathological Conditions Anatomical	Associate	24553630
Peripheral Arterial Disease	Associate	24101400
Polycystic Ovary Syndrome	Associate	21082232, 30975191
Polyendocrinopathies Autoimmune	Associate	19580466, 28941288
Precancerous Conditions	Associate	20558521
Prostatic Neoplasms	Associate	20364112, 23125333, 27115058, 27206800, 30808588
Prostatitis	Associate	23125333
Psychotic Disorders	Associate	16882283
Pulmonary Arterial Hypertension	Associate	30462536
Rectal Neoplasms	Associate	20558521
Renal Insufficiency Chronic	Associate	25401741, 35587600
Reperfusion Injury	Stimulate	29379093
Seizures	Associate	19915295, 21471599
Sleep Deprivation	Associate	36982291
Spondylocostal dysostosis autosomal recessive	Associate	17018660
Syndrome	Associate	8813042
Tertiary Lymphoid Structures	Associate	21317879
Tertiary Lymphoid Structures	Stimulate	37511437
Thyroid cancer Hurthle cell	Associate	37837817
Thyroid cancer medullary	Associate	37837817
Triple Negative Breast Neoplasms	Associate	35355564
Uveal melanoma	Associate	26994139
Vascular Calcification	Associate	26436544
Vascular Calcification	Inhibit	30769016
Vitamin D Deficiency	Associate	25695075, 39624014
Wasting Syndrome	Associate	25506941