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
• 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:0001503	Process	Ossification	TAS	7874174
GO:0002931	Process	Response to ischemia	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IDA	9694886, 10077597, 17376781, 27434672, 32817431, 33603117, 34194040, 34467854, 38326620, 38632411
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	7759551
GO:0005178	Function	Integrin binding	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	27434672
GO:0005513	Process	Detection of calcium ion	IBA
GO:0005513	Process	Detection of calcium ion	IDA	27434672
GO:0005513	Process	Detection of calcium ion	IEA
GO:0005513	Process	Detection of calcium ion	TAS	7759551
GO:0005515	Function	Protein binding	IPI	20361938
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20798521
GO:0005886	Component	Plasma membrane	IDA	8702647, 16740594, 17555508, 19789209, 22789683, 25104082, 25766501, 26386835
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7759551
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	9694886, 17376781, 27434672, 32817431, 33603117, 34194040, 34467854, 38632411
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	TAS	7874174
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	27434672
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
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	7759551
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	34239069
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	38326620, 38632411
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	ISS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	20966218, 37991948
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	33603117, 38326620, 38632411
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:0010038	Process	Response to metal ion	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	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:0030424	Component	Axon	IEA
GO:0032024	Process	Positive regulation of insulin secretion	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:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	34194040
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	Transmembrane transporter binding	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050927	Process	Positive regulation of positive chemotaxis	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0051924	Process	Regulation of calcium ion transport	IBA
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0060613	Process	Fat pad development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
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:0098978	Component	Glutamatergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0140582	Process	Adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway	IDA	35932760
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IDA	32843625
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	ISS
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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant hypocalcemia	Pathogenic; Likely pathogenic	rs2074927550, rs2473280121, rs104893712, rs2473225928, rs1057521129, rs397514728, rs2074935748	RCV004690232 RCV005930676 RCV001804717 RCV003994928 RCV005238991 RCV001797617 RCV005909103	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant hypocalcemia 1	Pathogenic; Likely pathogenic	rs2107633334, rs193922423, rs2107650195, rs2107650280, rs2107650472, rs2107631801, rs2107632553, rs2107632814, rs2107632822, rs2107632860, rs2107649385, rs2107649406, rs2074923990, rs2107627458, rs2107650629, rs2107632061, rs2107624704, rs2074810403, rs2074927550, rs2107648261, rs2074639464, rs2107632620, rs2107631756, rs2107649518, rs2107627659, rs2107649423, rs1553766262, rs2074814252, rs2107627671, rs2107649366, rs2107643705, rs2107649818, rs2107650029, rs1350886416, rs2107624936, rs2107650671, rs2107649885, rs2107650645, rs2473258614, rs979596307, rs1467887809, rs1202110240, rs2473226212, rs1576877587, rs2473280121, rs2473258053, rs2473281044, rs2473277634, rs2473276800, rs2473276491, rs2473281173, rs2473226409, rs797044441, rs121909258, rs121909259, rs104893689, rs121909260, rs28936684, rs104893690, rs121909261, rs104893694, rs104893695, rs104893696, rs104893697, rs104893698, rs104893699, rs121909263, rs121909264, rs121909266, rs104893701, rs104893702, rs104893703, rs1553769169, rs104893704, rs104893705, rs104893706, rs104893707, rs104893710, rs104893711, rs104893712, rs104893716, rs104893718, rs769256610, rs773146939, rs886041154, rs886041823, rs886041637, rs2473227575, rs2473226024, rs1052956823, rs2473215439, rs2473276542, rs2473228114, rs2473280480, rs2473214136, rs2473226965, rs2473213918, rs755073303, rs2473225653, rs2473205920, rs2473226161, rs2074934463, rs2473205414, rs1576859083, rs2473227839, rs2473205085, rs2473228958, rs201633414, rs1057517712, rs1057518933, rs1057521129, rs1057520791, rs201851934, rs140022350, rs1060502855, rs1064792970, rs767363250, rs1060502856, rs1060502847, rs1060502861, rs1064793992, rs201091657, rs1482119762, rs193922424, rs193922432, rs193922442, rs1553768972, rs1553766768, rs1085307984, rs1559956508, rs1559956683, rs1559959758, rs1276839362, rs1576854561, rs1576857818, rs397514728, rs1576875819, rs1576875835, rs1358793834, rs2074920676, rs761084315, rs2074924614, rs2074927630, rs2074926931, rs1559969429, rs2074624616, rs2074935748, rs2074565202, rs2074938472, rs2074897929	RCV001379696 RCV001377998 RCV001379475 RCV001379721 RCV001377943 RCV001389476 RCV001387820 RCV001388364 RCV001384283 RCV001382148 RCV001388368 RCV001383857 RCV001390641 RCV001535770 RCV001730102 RCV001868823 RCV005213591 RCV002542765 RCV001912618 RCV001970738 RCV001976004 RCV001941069 RCV001891852 RCV001997530 RCV002007310 RCV001924398 RCV001939580 RCV001994850 RCV001941522 RCV001900365 RCV001885869 RCV001912272 RCV001969834 RCV001931897 RCV001983000 RCV002026824 RCV001913409 RCV003101539 RCV002272633 RCV003774406 RCV003088759 RCV002651721 RCV002651722 RCV002651723 RCV002651729 RCV002651732 RCV002582862 RCV002786271 RCV002811393 RCV002894219 RCV002877444 RCV002895283 RCV002929133 RCV002923476 RCV003033614 RCV003056245 RCV001199039 RCV002228021 RCV000627760 RCV000008815 RCV001384282 RCV000477640 RCV000008821 RCV000008824 RCV000008825 RCV000008827 RCV000008828 RCV000008829 RCV000008830 RCV000524505 RCV002228022 RCV000549803 RCV001851747 RCV000008838 RCV000008839 RCV000008840 RCV000008841 RCV000549191 RCV003764537 RCV001390066 RCV000054480 RCV001040159 RCV000008852 RCV000008853 RCV000008855 RCV000459271 RCV000008859 RCV000226673 RCV000231951 RCV000815977 RCV001219086 RCV002229733 RCV003783058 RCV003783439 RCV003781014 RCV003781017 RCV003787797 RCV003806348 RCV003806402 RCV003806929 RCV003806973 RCV003802771 RCV003803400 RCV003800841 RCV003800899 RCV003800980 RCV003801422 RCV003794733 RCV003800431 RCV003809331 RCV003813634 RCV003815421 RCV003815642 RCV000457695 RCV002523905 RCV001379697 RCV002519527 RCV000694836 RCV000705547 RCV000700033 RCV002230097 RCV003153634 RCV002230400 RCV000474973 RCV000465913 RCV000465116 RCV002525806 RCV005624408 RCV000542291 RCV000639448 RCV001070010 RCV001852588 RCV000465400 RCV002513240 RCV000551549 RCV002234007 RCV000639467 RCV002532337 RCV002233710 RCV003768284 RCV000806048 RCV000822790 RCV000808448 RCV000054481 RCV001323851 RCV001208343 RCV001039545 RCV001058244 RCV001059152 RCV001222013 RCV001215539 RCV001210848 RCV001204429 RCV001233279 RCV001233441 RCV001229857 RCV001255709 RCV001255963 RCV001280870	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome with hypocalcemia	Pathogenic; Likely pathogenic	rs2107627458, rs104893706, rs397514729	RCV001535770 RCV000008847 RCV000054483	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CASR-related calcium metabolism disorders	Likely pathogenic; Pathogenic	rs201633414	RCV003333060	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CASR-related disorder	Pathogenic; Likely pathogenic	rs2107632822, rs1260540509, rs104893689, rs28936684, rs104893696, rs121909263, rs104893712, rs769256610, rs2473277883, rs2473225113, rs104893695, rs2473275975, rs2473214934, rs140022350, rs1553769059, rs397514728, rs2074565202	RCV004554860 RCV004554874 RCV004554586 RCV004554587 RCV004758591 RCV004554588 RCV004554589 RCV004554590 RCV004758675 RCV004554906 RCV004554901 RCV004554902 RCV004554903 RCV004554914 RCV004554774 RCV004554917 RCV004554695 RCV004731110	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, idiopathic generalized, susceptibility to, 8	Likely pathogenic; Pathogenic	rs193922423, rs2107650629, rs2107649885, rs2473276491, rs104893689, rs121909260, rs104893697, rs28936684, rs121909263, rs121909266, rs104893707, rs104893712, rs104893716, rs773146939, rs886041823, rs201633414, rs1057518933, rs140022350, rs767363250, rs1482119762, rs1085307984, rs397514728, rs1358793834, rs2074624616, rs2074565202	RCV005023123 RCV002477905 RCV005025749 RCV005034451 RCV002496307 RCV002482842 RCV005025034 RCV002496308 RCV002476947 RCV005025035 RCV005025036 RCV005025037 RCV005025038 RCV002494624 RCV005031847 RCV005033929 RCV002488857 RCV002488902 RCV005033986 RCV002496905 RCV002499075 RCV002490628 RCV001536112 RCV002497795 RCV002480873	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Likely pathogenic; Pathogenic	rs121909263, rs104893719, rs2107627809	RCV006277642 RCV006436381 RCV006276299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypocalciuric hypercalcemia	Pathogenic; Likely pathogenic	rs2107633334, rs193922423, rs2107650195, rs2107650280, rs2107650472, rs2107631801, rs2107632553, rs2107632814, rs2107632822, rs2107632860, rs2107649385, rs2107649406, rs2074923990, rs2107627458, rs2107624870, rs78925326, rs2107632061, rs2107624704, rs886041823, rs2074810403, rs2074927550, rs2107648261, rs2074639464, rs2107632620, rs2107631756, rs2107649518, rs2107627659, rs2107649423, rs1553766262, rs2074814252, rs2107627671, rs2107649366, rs2107643705, rs2107649818, rs2107650029, rs1350886416, rs2107624936, rs2107650671, rs2107625030, rs2107649885, rs2473258614, rs979596307, rs1467887809, rs1202110240, rs2473226212, rs1576877587, rs2473280121, rs2473258053, rs2473281044, rs2473277634, rs2473276800, rs2473276491, rs2473281173, rs2473226409, rs797044441, rs121909258, rs121909259, rs104893689, rs121909260, rs28936684, rs104893690, rs104893694, rs121909263, rs121909264, rs121909266, rs104893701, rs104893704, rs104893705, rs104893707, rs104893712, rs104893716, rs769256610, rs773146939, rs2473272760, rs2473277536, rs886041154, rs886041637, rs754033243, rs2473227575, rs2473226024, rs1052956823, rs2473215439, rs2473276542, rs2473228114, rs2473280480, rs2473214136, rs2473226965, rs2473213918, rs755073303, rs2473225653, rs2473205920, rs2473226161, rs2074934463, rs2473205414, rs1576859083, rs2473227839, rs2473205085, rs2473228958, rs2473205737, rs201633414, rs1057517712, rs1057518933, rs1057521129, rs1057520791, rs201851934, rs1057520557, rs140022350, rs1060502855, rs1064792970, rs767363250, rs1060502856, rs1060502847, rs1060502861, rs1064793992, rs1482119762, rs193922422, rs193922424, rs193922425, rs193922429, rs193922432, rs193922433, rs193922435, rs193922437, rs193922442, rs1553731681, rs1553768972, rs1553766768, rs1085307984, rs1559956508, rs1559956683, rs1559959758, rs1276839362, rs1576854561, rs1576857818, rs397514728, rs1576875819, rs1576875835, rs1358793834, rs2074920676, rs761084315, rs2074924614, rs2074927630, rs2074926931, rs1559969429, rs2074624616, rs2074935748	RCV001379696 RCV001377998 RCV001379475 RCV001379721 RCV001377943 RCV001389476 RCV001387820 RCV001388364 RCV001384283 RCV001382148 RCV001388368 RCV001383857 RCV001390641 RCV001535770 RCV001582352 RCV001732817 RCV001779470 RCV001779505 RCV001779533 RCV001825078 RCV001912618 RCV001970738 RCV001976004 RCV001941069 RCV001891852 RCV001997530 RCV002007310 RCV001924398 RCV001939580 RCV001994850 RCV001941522 RCV001900365 RCV001885869 RCV001912272 RCV001969834 RCV001931897 RCV001983000 RCV002026824 RCV001913409 RCV002238566 RCV002271885 RCV003774406 RCV003088759 RCV002651721 RCV002651722 RCV002651723 RCV002651729 RCV002651732 RCV002582862 RCV002786271 RCV002811393 RCV002894219 RCV002877444 RCV002895283 RCV002929133 RCV002923476 RCV003033614 RCV003056245 RCV000793559 RCV002228021 RCV000627760 RCV001060775 RCV001384282 RCV000477640 RCV001851746 RCV000524505 RCV002228022 RCV000549803 RCV001851747 RCV001851748 RCV000549191 RCV003764537 RCV001390066 RCV001040159 RCV001851749 RCV000459271 RCV000226673 RCV000231951 RCV003123385 RCV003226670 RCV000815977 RCV001219086 RCV002229733 RCV003404750 RCV003783058 RCV003783439 RCV003781014 RCV003781017 RCV003787797 RCV003806348 RCV003806402 RCV003806929 RCV003806973 RCV003802771 RCV003803400 RCV003800841 RCV003800899 RCV003800980 RCV003801422 RCV003794733 RCV003800431 RCV003809331 RCV003813634 RCV003815421 RCV003815642 RCV003994927 RCV000457695 RCV002523905 RCV001379697 RCV002519527 RCV000694836 RCV000705547 RCV004701464 RCV000700033 RCV002230097 RCV003153634 RCV002230400 RCV000474973 RCV000465913 RCV000465116 RCV002525806 RCV000542291 RCV000639448 RCV000029429 RCV000029430 RCV000029431 RCV000029432 RCV000029436 RCV000465400 RCV000029440 RCV000029443 RCV000029445 RCV000029450 RCV000029453 RCV000029454 RCV000551549 RCV002234007 RCV000639467 RCV002532337 RCV002233710 RCV003768284 RCV000806048 RCV000822790 RCV000808448 RCV001384281 RCV001323851 RCV001208343 RCV001039545 RCV001058244 RCV001059152 RCV001222013 RCV001215539 RCV001210848 RCV001204429 RCV001233279 RCV001233441 RCV001229857	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypocalciuric hypercalcemia 1	Likely pathogenic; Pathogenic	rs193922423, rs2107631801, rs2107650629, rs2074927550, rs2107648305, rs2107650046, rs2107624989, rs387907394, rs2107649885, rs2107627423, rs794729230, rs2473276491, rs121909258, rs121909259, rs104893689, rs121909260, rs104893697, rs121909262, rs28936684, rs121909263, rs121909264, rs121909265, rs121909266, rs104893704, rs104893705, rs797044441, rs104893707, rs104893712, rs104893716, rs121909268, rs104893690, rs104893719, rs773146939, rs886041154, rs886041823, rs2473279667, rs2473278040, rs2473272943, rs2473280509, rs2473282609, rs779019180, rs2473257829, rs2473225614, rs201633414, rs1057518933, rs1057520791, rs140022350, rs767363250, rs201091657, rs1482119762, rs1202110240, rs193922432, rs1085307984, rs397514728, rs1576857840, rs1576875835, rs1358793834, rs761084315, rs2074624616, rs2074565202	RCV005023123 RCV005411740 RCV002477905 RCV006249805 RCV002225161 RCV002244301 RCV002249328 RCV002267576 RCV005025749 RCV002272589 RCV000987312 RCV005034451 RCV000008810 RCV000008811 RCV000008813 RCV002482842 RCV005025034 RCV000008832 RCV000008833 RCV000008834 RCV000008835 RCV000008836 RCV000008837 RCV000008842 RCV000008843 RCV000008845 RCV005025036 RCV005025037 RCV000008857 RCV000008860 RCV000008861 RCV000008862 RCV002494624 RCV003982979 RCV005031847 RCV003315206 RCV003984454 RCV003984455 RCV003984457 RCV003984460 RCV003984461 RCV003984462 RCV004515747 RCV005033929 RCV002488857 RCV000664400 RCV002488902 RCV005033986 RCV005624408 RCV002496905 RCV003983103 RCV002247396 RCV002499075 RCV002490628 RCV000987310 RCV001030007 RCV001536112 RCV004031870 RCV002497795 RCV002480873	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypoparathyroidism	Pathogenic; Likely pathogenic	rs104893694, rs193922430, rs397514728	RCV006439565 RCV000029437 RCV006439621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalcemia	Likely pathogenic	rs1057518933	RCV000415394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Likely pathogenic	rs1057518933	RCV000415394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypocalcemia	Pathogenic	rs1260540509	RCV001795868	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypocalciuria	Likely pathogenic	rs1057518933	RCV000415394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal severe primary hyperparathyroidism	Likely pathogenic; Pathogenic	rs193922423, rs2107627458, rs2107650629, rs2107649885, rs2107627423, rs1313627454, rs2473276491, rs121909259, rs104893689, rs121909260, rs28936684, rs104893690, rs869320729, rs104893697, rs104893700, rs121909263, rs121909266, rs104893705, rs104893707, rs104893712, rs104893709, rs104893716, rs773146939, rs886041823, rs886041637, rs201633414, rs1057518933, rs140022350, rs767363250, rs1482119762, rs193922432, rs1085307984, rs397514728, rs1358793834, rs2074624616, rs1576857818, rs2074565202	RCV005023123 RCV001535770 RCV002477905 RCV005025749 RCV003225225 RCV002466850 RCV005928729 RCV000008812 RCV000008814 RCV002482842 RCV000008818 RCV000008819 RCV000008820 RCV005025034 RCV000008831 RCV002496308 RCV002476947 RCV005025035 RCV000054484 RCV000008850 RCV005025037 RCV000008856 RCV005025038 RCV002494624 RCV005031847 RCV005238817 RCV004586698 RCV002488857 RCV002488902 RCV005033986 RCV002289683 RCV000029439 RCV002499075 RCV002490628 RCV001536112 RCV002497795 RCV003339542 RCV002480873	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrolithiasis/nephrocalcinosis	Pathogenic; Likely pathogenic	rs1553766262, rs2473257377, rs2107648387, rs2473258614, rs2107624704, rs104893698, rs28936684, rs121909263, rs104893701, rs104893705, rs797044441, rs104893712, rs104893716, rs769256610, rs886041154, rs886041823, rs886041637, rs2074631977, rs201633414, rs201091657, rs193922432, rs1276839362, rs397514728, rs1576875819, rs1358793834, rs2074935748, rs2074565202	RCV004044367 RCV004057043 RCV004060589 RCV004057455 RCV004061726 RCV004018592 RCV004018593 RCV004018594 RCV004018595 RCV004018596 RCV004018597 RCV003343599 RCV004018600 RCV004601135 RCV004021054 RCV004021069 RCV004021067 RCV004525670 RCV004022152 RCV004992275 RCV004601088 RCV004028231 RCV003343624 RCV004030129 RCV004031110 RCV003353236 RCV003365296	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parathyroid gland adenoma	Likely pathogenic	rs1057518933	RCV000415394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperparathyroidism	Likely pathogenic; Pathogenic	rs121909258	RCV005241233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HEREDITARY CHRONIC PANCREATITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter disease type 3	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCIUM METABOLISM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCULUS OF KIDNEY AND URETER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, IDIOPATHIC GENERALIZED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN HYPERCALCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypokalemia-hypomagnesemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GITELMAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, NEONATAL SEVERE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, PRIMARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, SECONDARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic generalized epilepsy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS, CALCIUM OXALATE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	no classifications from unflagged records	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Serum calcium level	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired partial lipodystrophy	Acquired Partial Lipodystrophy	BEFREE	10971459		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	24368200		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	31571160, 31671855		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27009300, 27865176, 28888074, 28988742, 29288188, 29417201, 29633386, 29716633, 29797659, 30006739, 30120708, 30539476, 30651858, 30666425, 31282760, 31335716, 31428935, 31554741		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25174587		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30697165		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12377811		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31640756		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11500234, 14694525, 21317879, 29589297, 31028190, 8995751		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15598778, 27978548		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29633386, 30006739, 30120708, 30666425, 31335716, 31554741		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30006739, 30735463		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	30632631		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	1887245		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	30104322		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31640098	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	16516257, 17538635		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24948534		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23152165		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	18583996, 29025766		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30809033		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	20938172		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30121627, 31339230, 31831007		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29158532		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21778422, 23228129, 24101400, 29690611		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	25134967	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10088673, 12516090		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21778422, 23228129, 24101400, 29690611		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24101400, 25134967	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	10770217, 11013439, 11136551, 11889203, 12050233, 12733714, 15662592, 17039419, 17048213, 20119591, 20374733, 20501971, 20668040, 22789683, 23009664, 23169696, 24297799, 24708097, 24823460, 25039540, 25506941, 25766501, 25967373, 26764418, 27561204, 27647839, 28742508, 29599414, 29743878, 30052933, 30496603, 8878438, 9920108		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	14713274, 17374709, 28941288, 30347240, 31402496		★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome type 1	Autoimmune polyendocrine syndrome type 1	Pubtator	19837919	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome, type 1	Autoimmune Polyendocrinopathy	BEFREE	17374709		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	10770217, 11013439, 11136551, 11289719, 11889203, 12050233, 12173690, 12574188, 12733714, 14519094, 15005845, 15056980, 15198301, 15551332, 15588433, 15662592, 16128246, 17039419, 17048213, 19063686, 20119591, 20374733, 20501971, 20668040, 21135065, 21441391, 21645025, 22789683, 23009664, 23169696, 23856264, 24297799, 24708097, 25039540, 25506941, 25766501, 25967373, 26052899, 26764418, 27561204, 27647839, 28122587, 28742508, 29599414, 29743878, 30052933, 30496603, 8597637, 8878438, 9920108		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant hypocalcemia	Hypocalcemia	ORPHANET_DG	12733714, 22789683, 9920108		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant hypocalcemia	Hypocalcemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant hypocalcemia	Hypocalcemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	22669842		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25492700, 26195067, 28000533, 29288188, 30181581, 30659408, 30938714, 31624374, 31650026, 31677848		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	11264177		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	12241879, 15056980, 15200151, 17048213, 21865213, 23856265, 25506941, 25631355, 27339034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome type 3	Bartter syndrome	Pubtator	25506941	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Syndrome Type 3 with Hypocalciuria	Bartter syndrome	Pubtator	19789209, 27087013	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11522659, 15240520, 19322012, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	27080226		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31055613		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	12459170		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	18492387	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	12040821	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone Marrow Neoplasms	BEFREE	30936262		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	31441962		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	28285316		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28193777, 28302023, 29061641		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11108243, 14602739, 15336602, 16179927, 17041782, 19237714, 19332022, 19597490, 20727020, 21389059, 24481145, 26650177, 28764683, 29061641, 29387985, 29504802, 31739702		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18492387, 24481145, 24584713, 25409930, 26650177, 28764683, 33845096, 37511437	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31772298		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	26436544, 30769016	Associate	★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium Metabolism Disorders	BEFREE	19912241, 25069966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	25165186	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	21317879, 28676564, 32609827	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12517779, 14694525, 26153034, 29382784, 31028190		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11522659, 15240520, 19322012, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21532883, 26081001, 28204981, 30670085, 30721445, 30841620		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24576174, 25382680, 29559845, 34449964	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20628030, 26252839, 28272967, 28969098, 31686857		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	27080226, 28088790		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	21471599	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19957088		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28518143, 29662310, 31167987, 31173208		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24992569		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	11457744, 23303387, 28265001, 29440406, 29617930, 31236583		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	15347804		★☆☆☆☆ Found in Text Mining only
Cerebral cortex myoclonus	Cerebral Cortex Myoclonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16021267		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29633386, 30006739, 30120708, 30666425, 31335716, 31554741		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	16101572, 21359593		★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	24954360		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	29710499		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11863123, 19640368, 29794776		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	17537980, 20303786, 22200434, 24992569, 25401741, 27517676, 31619668, 31646544, 31830606		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11264177, 27742064, 28715249, 29207115, 29769184, 30024314, 30458878, 30670085, 30938714, 31370892, 31432594		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	8781349		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25558818		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12517779, 17557293, 18618519, 18843020, 19621386, 20428782, 20556514, 20558521, 21374737, 23055106, 24176760, 26076051, 26178670, 28765616		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16278666, 17557293, 18618519, 20648625, 21625458, 26076051	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18843020		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19706842, 20558521, 22278364, 22503956, 23555732, 24195777, 24691920, 25124570, 25701758, 25879211, 26178670, 27080226, 28366766, 28676564, 28765616, 28856682, 30271078, 30410941, 30923017, 8758933		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17463182, 18566015, 18618519, 18843020, 18980667, 20558521, 21084270, 22278364, 23555732, 26076051, 28676564, 28765616, 28856682, 30923017, 34576291	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18980667		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	24691920, 26178670		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24691920	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	22978668		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28983729		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29710499		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17682059, 29423418, 29644008		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23860708		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17374704, 23860708		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17374704		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25134967, 29763933	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23860708		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29038338, 29443792, 29499750, 29808007, 30072559, 30198955, 30463995, 30560413, 30666425, 30804212, 31055613, 31177852, 31219357, 31327064, 31355491, 31428935		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28320072		★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 1	Deafness	Pubtator	34160437	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27346252, 30496623		★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	30255569		★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	15005845	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24101400, 27510541, 28792489, 29133527, 30183039, 30227815, 30834778		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24101400, 25401741, 27510541, 28792489, 29133527, 29490306, 30183039, 30227815, 30834778, 8781349, 8934212		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25401741, 27510541	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24101400	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11095989, 23330547, 24101400, 8934212		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30718926		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	29662310		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25401741	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25444722, 30006739, 30275435, 30735463, 31200358, 31219975, 31623476, 31754328		★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	BEFREE	25069966		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	31775661	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	20846291, 26855056, 28122587		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	24101400		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	24763815, 30560413, 30893101		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	14713274, 27561204		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29348629, 29631630		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29348629	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27322879		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	20364112	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	20798521	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	31028190		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	28868758		★☆☆☆☆ Found in Text Mining only
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	BEFREE	10468915, 10811290, 10971459, 11013439, 11161843, 11323743, 11668634, 11889154, 11889203, 12412776, 14602739, 15241688, 15292296, 15646815, 15662592, 15879434, 15963484, 16649980, 16740594, 17473068, 17698911, 18430790, 19073830, 19423460, 19789209, 19912241, 20631026, 20697181, 20846291, 21454225, 21468522, 21521328, 21566075, 22315359, 22422767, 22989537, 23077345, 23081733, 23764372, 23802516, 23856264, 23966241, 24731014, 24754691, 24854525, 25091521, 25104082, 26158657, 26596315, 27418061, 27647839, 28222409, 29325022, 29599414, 29743878, 30052933, 8675635, 8813042, 8823531, 8878438, 8934212, 9039332, 9109436, 9217223, 9736402, 9915958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	CLINVAR_DG	10885494, 11763315, 12095982, 12114500, 12580936, 1302026, 16649980, 17284438, 17974727, 1889203, 19389809, 19759318, 20164288, 20798521, 20972686, 21239511, 21521328, 22422767, 23077345, 24947037, 26963950, 27666534, 7726161, 7916660, 8675635, 8878438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign hypercalcemia type 3	Benign hypercalcemia	Pubtator	26082470, 29325022	Associate	★☆☆☆☆ Found in Text Mining only
Familial hypocalciuric hypercalcemia type 1	Hypocalciuric Hypercalcemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	24553630, 25420019, 26994139, 32150253, 32386559	Associate	★☆☆☆☆ Found in Text Mining only
Familial idiopathic hypercalciuria	Hypercalciuria	BEFREE	11733622		★☆☆☆☆ Found in Text Mining only
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	BEFREE	14985373, 19474519, 20164288, 27306766, 29036195		★☆☆☆☆ Found in Text Mining only
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	GENOMICS_ENGLAND_DG	28740527		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29351922		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	27862333		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	11095444, 11787938		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	22503956		★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	14695181		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	15056980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	26155832, 28108463, 28302023, 28651374, 28754782, 29540359, 29666934, 29769444, 30201736, 30478409, 31466914, 31798595		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26155832, 28108463, 28302023, 28754782, 29540359, 29666934, 29769444, 30201736, 31466914, 31798595		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	17522693	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28128714, 30702011, 31005597		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	17374709		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	12733714	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29710499		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12459170, 25492700, 25583818, 27009301, 27145250, 27865176, 27910858, 28128714, 28272967, 28356156, 28366766, 29032736, 29556955, 29769134, 29769444, 29861325, 29909917, 29973238, 30075127, 30108584, 30410941, 30621018, 30632631, 30659408, 30715612, 30734529, 30760795, 30841880, 30842774, 30906625, 31005597, 31186046, 31221182, 31268375, 31414180, 31432594, 31484657, 31571160, 31628559, 31705854, 31754328, 31790761, 31814915		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	29769134		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	30988175		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	22166946	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary chronic pancreatitis	Hereditary Pancreatitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	30791947		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	ORPHANET_DG	26166472		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	30965318		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	22424352		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30632631		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	16278666, 17557293	Associate	★☆☆☆☆ Found in Text Mining only
Humoral hypercalcemia of malignancy (disorder)	Humoral Hypercalcemia Of Malignancy	BEFREE	14602739, 15200153, 21532883		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	29763933	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	30975191	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	16101572		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	10023897, 10468915, 11013439, 11033758, 11231970, 12161540, 14602739, 15347804, 15579740, 16649980, 16882283, 17039419, 17473068, 17853337, 18525093, 18787045, 19250271, 19423460, 19694204, 19789209, 20601885, 20846291, 21175100, 21468522, 21521328, 21532883, 21643651, 21986511, 22315359, 23612447, 23817301, 24754691, 24854525, 25292184, 26596315, 26855056, 26911344, 27418061, 27926951, 28122587, 28833550, 29325022, 30407919, 30449544, 30996138, 31433865, 31641801, 31797261, 9109436		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalcemia	Hypercalcemia	LHGDN	11668634, 11762699, 11889154, 12469911, 15572418, 15879434, 16598859, 16642557, 17110864, 17372216, 17473068, 17698911, 18296474, 18525093, 18621740, 18796518		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalcemia	Hypercalcemia	Pubtator	14641934, 19423460, 19789209, 25292184, 27087013, 29420171, 31778168, 32150253, 33771883, 35095753, 36638628, 37602721	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalcemia	Hypercalcemia	CLINVAR_DG	15751724, 791660, 8702647, 9011580		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalcemia	Hypercalcemia	CTD_human_DG	9011580		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalcemia	Hypercalcemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercalciuria	Hypercalciuria	Pubtator	12239240, 12733714, 17332735, 17522693, 25292184, 25506941, 8813042, 9915958, 9920407	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	12239240	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	21778422		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28575322		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	28633902		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	31282760		★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	11033758, 11323743, 12161540, 12412774, 12412776, 15292296, 15606374, 17117288, 19184636, 22503956, 22577108, 24854525, 25069966, 25091521, 26332755, 29136775, 29724589, 29743878, 30730839, 8981014, 8995751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Hyperparathyroidism	Pubtator	11044218, 11703583, 36755240	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Hyperparathyroidism	CTD_human_DG	11589681, 9011580		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Hyperparathyroidism	LHGDN	11668634, 12656660, 14985373, 16738533, 17110864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Hyperparathyroidism	Pubtator	14985373, 19789209, 34111698, 34659108, 37810884, 8995751, 9507199	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism 1	Hyperparathyroidism	Pubtator	14985373, 16995822, 22187299, 29036195	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Neonatal Severe Primary	Hyperparathyroidism	Pubtator	19389809, 20631026, 23077345, 25828954, 30376845, 31778168, 34111698, 34659108, 34887979, 35399047, 35848051, 35857775, 37246686, 7717399, 8675635, 8702647, 8878438, 9920407	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	12469911, 17018660, 18492387, 19423460, 27760455, 28222409, 30376845, 32761341, 35733207, 38130397, 8675635	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	11044218, 19839774, 22166946, 23552627, 27468225, 27739473, 29763933, 34504264, 35140213, 36755240	Associate	★☆☆☆☆ Found in Text Mining only
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	BEFREE	10468915, 11323743, 11668634, 11762699, 11889203, 12412776, 15200151, 15241688, 15292296, 15579740, 15588433, 15662592, 15879434, 16509534, 17555508, 18796518, 19789209, 20631026, 21468522, 21667241, 22422767, 22989537, 23612447, 23891851, 24517148, 24735972, 24763815, 24854525, 25828954, 27666534, 30407334, 30665551, 30730839, 31778168, 7593455, 7717399, 8597637, 8675635, 8702647, 8823531, 8878438, 9109436, 9217223, 9253359, 9736402, 9920407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	UNIPROT_DG	14985373, 15572418, 17555508, 27434672, 8675635, 8878438, 9253359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	GENOMICS_ENGLAND_DG	17048213, 22620673, 28740527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	CLINVAR_DG	24854525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, NEONATAL SEVERE	Hyperparathyroidism	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	11580999, 11589681, 12150336, 12412774, 15572418, 17018660, 17062884, 17853337, 18410554, 18751724, 19250271, 19423460, 19474519, 20164288, 20846291, 21183554, 21521328, 22232026, 22577108, 22989537, 23081733, 23660642, 23946278, 24832896, 25104082, 26710757, 27760455, 28222409, 29136674, 29589297, 29794776, 30690792, 31092749, 31797261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Primary	Hyperparathyroidism	LHGDN	17062884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Primary	Hyperparathyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	10940742, 11033758, 11703583, 15646815, 15697170, 16919492, 19640368, 19839774, 19923405, 20303786, 21289269, 25556167, 25792032, 27517676, 27739473, 28277829, 28867373, 29038882, 29724589, 30342948, 31646544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	21765099, 24121387		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	8995751	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	21288827	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19066294	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10912749, 26407873, 28348014, 29128361, 30626206, 30906225, 31173208		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	8702647	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	12733714, 19915295, 24042516, 29463778, 30020481, 32386559, 8813042	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypocalcemia Autosomal Dominant with Bartter Syndrome	Hypocalcemia	Pubtator	23802516, 24244430, 24708097, 27334330, 28742508, 29463778, 31063613, 32386559, 33112267	Associate	★☆☆☆☆ Found in Text Mining only
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	Hypocalcemia	UNIPROT_DG	10487661, 12050233, 12107202, 12241879, 12574188, 12915654, 15551332, 16608894, 19179454, 22789683, 23169696, 23966241, 25766501, 7874174, 8702647, 8733126, 8813042, 8878438, 9253358, 9661634, 9920108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	Hypocalcemia	ORPHANET_DG	12733714, 22789683, 9920108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	Hypocalcemia	BEFREE	15960151, 25091521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	Hypocalcemia	GENOMICS_ENGLAND_DG	17048213, 28740527, 8813042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	Hypocalcemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME	Hypocalcemia	ORPHANET_DG	12733714, 22789683, 9920108		★☆☆☆☆ Found in Text Mining only
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome	Hypocalcemia With Bartter Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalcemic seizures	Hypocalcemic seizures	BEFREE	28742508		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia	Hypocalciuric Hypercalcemia	BEFREE	12173690, 15200151, 15572418, 17110864, 24292865, 28515208, 9920407		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia	Hypocalciuric Hypercalcemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia familial type 1	Hypocalciuric hypercalcemia	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia familial type 2	Hypocalciuric hypercalcemia	Pubtator	24708097	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	10468915, 10811290, 10885494, 11013439, 11095989, 11161843, 11231970, 11323743, 11668634, 11762699, 11763315, 11889154, 11889203, 12412774, 12412776, 12469911, 14602739, 14641934, 14714270, 15200151, 15241688, 15292296, 15579740, 15646815, 15662592, 15879434, 15963484, 16497624, 16649980, 16740594, 17217434, 17473068, 17698911, 18410554, 18430790, 18787045, 18796518, 18830196, 19073830, 19423460, 19694204, 19789209, 20164288, 20374733, 20631026, 20697181, 21175100, 21454225, 21468522, 21521328, 21566075, 21667241, 21785908, 21986511, 22232026, 22315359, 22422767, 22503956, 22989537, 23077345, 23081733, 23169696, 23764372, 23802516, 23856264, 23856265, 23966241, 24517148, 24708097, 24731014, 24854525, 24947037, 25091521, 25104082, 25150870, 25444087, 26158657, 26386835, 26596315, 26963950, 27087013, 27418061, 27647839, 27666534, 27913609, 28176280, 28222409, 28690912, 29743878, 30052933, 30449544, 31641801, 31797261, 7717399, 8597637, 8813042, 8934212, 9039332, 9109436, 9217223, 9253359, 9736402, 9915958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	UNIPROT_DG	11762699, 15572418, 15579740, 15879434, 16598859, 16740594, 17473068, 17698911, 19179454, 19789209, 21566075, 21643651, 22114145, 23169696, 23966241, 25104082, 25292184, 26386835, 27434672, 7673400, 7726161, 7916660, 8636323, 8702647, 8878438, 9298824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	CLINVAR_DG	11763315, 12095982, 12114500, 12580936, 1302026, 15241688, 15751724, 16642557, 17284438, 18751724, 19389809, 19423559, 19759318, 20034274, 20164288, 21289269, 22422767, 22798347, 23077345, 23966241, 24203066, 24947037, 25091521, 25766501, 26161261, 27390877, 27434672, 7726161, 791660, 7916660, 8675635, 8702647, 8878438, 9011580, 9395465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	GENOMICS_ENGLAND_DG	17048213, 22620673, 27390877, 28740527, 2983592, 7717399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	CTD_human_DG	7916660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III	Hypocalciuric Hypercalcemia	BEFREE	9915958		★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	BEFREE	28575322		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	11701698, 12050233, 12107202, 12733714, 12915654, 14677060, 14713274, 15200151, 15960151, 16912130, 19063686, 21765099, 23856265, 23873991, 24297799, 25227206, 25367057, 29846619, 30252069, 30358904, 8813042, 9253358, 9661634		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	CTD_human_DG	11701698		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	LHGDN	14713274, 15960151		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	16983178, 19837919, 20119591, 21471599, 30137364, 30496603, 31433868, 33112267, 34193455, 8813042	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	CLINVAR_DG	7726161		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism - autosomal dominant	Hypoparathyroidism	BEFREE	10487661, 11323743, 18712808, 23966241, 24823460, 8597637, 8698326, 9253358, 9380434		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism - autosomal dominant	Hypoparathyroidism	CLINVAR_DG	10885494, 11134112, 11763315, 12095982, 12114500, 12580936, 1302026, 15241688, 16642557, 16649980, 17284438, 17974727, 18751724, 1889203, 19389809, 19423559, 19759318, 20034274, 20164288, 20798521, 20972686, 21239511, 21289269, 21521328, 21645025, 22422767, 22798347, 23077345, 23966241, 24203066, 24297799, 24947037, 25091521, 25766501, 26161261, 26963950, 27390877, 27434672, 27666534, 7726161, 7916660, 8675635, 8878438, 9011580, 9395465		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	BEFREE	20119591, 28938448, 9152631		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	CTD_human_DG	20119591		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Hypophosphatemic rickets	Pubtator	12239240, 17332735	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	22503787		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	24292865	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	18756473		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Idiopathic generalized epilepsy	Epilepsy	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	10886547, 11733622, 12239240		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypoparathyroidism	Hypoparathyroidism	BEFREE	11134112, 14713274, 15472173, 15588433, 16918956, 21471599, 22789683, 23873991, 25091521, 26764418, 27805845		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypoparathyroidism	Hypoparathyroidism	CTD_human_DG	11701698		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30462536, 31002596, 31194563		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31186046		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24919573, 28088790, 30514403		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25558818		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21082232	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	BEFREE	10971459		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	12604917, 18430790, 9426439		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21667241		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	40225164	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30965318		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	26654249		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	9802601		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	31611775		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	31585923		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	10886547, 17018660, 17872384, 18446382, 19133942, 19887834, 20067903, 21183554, 21966463, 22107799, 22660550, 23864702, 24832896, 24992569, 26107257, 26272126, 27739473, 28609763, 29682741, 30407299, 30446806		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	GWASCAT_DG	26272126		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	17537980		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25401741	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30104322		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	11863123, 19640368, 19923405, 29038882		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	11044218, 17537980	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27739473, 29763933, 39624014	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29351922		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11863123, 19640368, 29794776		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	11863123, 15864123		★☆☆☆☆ Found in Text Mining only
Lactose Intolerance	Lactose Intolerance	BEFREE	18980667		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	28176280		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19238016, 25583785, 27258611, 27907031, 28193774, 28708956, 28762313, 30042420, 30120708, 30275568, 30539529, 30632623, 30716352		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35614177	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	30791947		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25174587, 27865176, 29017060, 29080982, 29472720, 29515236, 29716633, 29797659, 30524966, 30539529, 30632631, 31547472		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	17876342		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25024626, 25270285, 29133527, 29716964, 30078052, 30268125, 30327605, 30659408, 31484657, 31681766, 9221800		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	8781349		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21424122, 25092647, 28495613, 29244179, 30102401		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30952806, 31402496		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24481145	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	31355491		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	28888074, 29716633, 29797659, 30381966, 30539476		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28762313, 29032736, 30198955, 30300581, 30443597, 30500439, 30670085, 30680777, 30791947, 30841880, 31355491, 31429760, 31432594, 31554741		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	31648294		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	30652353		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	29118234, 29655961, 30652353, 31005597, 31428935, 31772298		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	29118234, 30652353, 31005597, 31772298		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	30126755		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17902184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11108243, 14602739, 15336602, 16179927, 17041782, 19237714, 19332022, 19597490, 20727020, 21389059, 24481145, 26650177, 28764683, 29061641, 29387985, 29504802, 31739702		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29348629, 29631630		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21424122, 29861325, 31041739		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21532883, 26081001, 28204981, 30670085, 30721445, 30841620		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17278108, 20628030, 26252839, 28272967, 28969098, 31686857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23826131, 27108064, 29859625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11016624, 16982748, 19237714, 20364112, 21703046, 23125333, 26407952, 26799485, 28235763, 31276858		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26153034, 28951460, 29849787, 31391530, 31650467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31337787		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11522659, 15240520, 19322012, 28789701, 30201920		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12516090, 14695181, 15200153, 15240520, 15496964, 16179927, 16211229, 17278108, 17682059, 19038444, 19237714, 19487277, 20428207, 21317879, 22354001, 23098435, 23228129, 23674327, 24667964, 24782509, 25270285, 25427612, 25510272, 25583785, 25621840, 25800760, 26212611, 26650177, 26759369, 26893368, 26895243, 26961900, 26965523, 27080226, 27226436, 27329987, 27488725, 27862333, 28035433, 28067900, 28071584, 28128714, 28143567, 28161520, 28204981, 28235763, 28272967, 28543380, 28651374, 28660319, 28762313, 28771105, 28789701, 28951460, 28958644, 28960810, 28971751, 28974121, 29024301, 29025771, 29038338, 29123516, 29207115, 29247824, 29288188, 29579146, 29644008, 29655961, 29695932, 29730057, 29769134, 29772559, 29808007, 29878913, 29895885, 29950117, 30030293, 30034945, 30108584, 30120708, 30121627, 30201736, 30257649, 30261221, 30271078, 30275435, 30327605, 30347240, 30463849, 30543841, 30551196, 30560413, 30593467, 30621018, 30636882, 30638624, 30649750, 30653988, 30713539, 30772656, 30791947, 30853982, 30875561, 30936262, 30937265, 30992085, 31004624, 31142602, 31160157, 31160723, 31161552, 31176617, 31190844, 31219357, 31276858, 31380838, 31383408, 31414180, 31511513, 31554741, 31628559, 31698614, 31730903, 31754328, 31815041		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18618519, 18843020, 19237714, 20556514, 20558521, 21374737, 23055106, 24176760, 26076051, 26178670, 28765616		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18621740		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28764683		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30791947		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31619091		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	24238055, 8756555		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30249594		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11390379, 32241263	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18949016, 20395199, 30853982		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21667241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	30651858		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	19912241, 21821919, 23330547, 28518143, 28901272, 31041739		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30227815		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	31758522		★☆☆☆☆ Found in Text Mining only
Milk-Alkali Syndrome	Milk-Alkali Syndrome	CTD_human_DG	9011580		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36982291	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	12161540, 18219222, 21765099		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	14715834, 19474519, 22577108, 29136674, 31658439		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12459170, 23303387, 27863374, 28588060, 28604120, 28857616, 29105517, 30185037, 30730071, 31005597		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	12060636		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	24292865	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17374704		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19105833, 31173208		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29763933	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31257515		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	24101400	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal severe primary hyperparathyroidism	Hyperparathyroidism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasms	Neoplasms	BEFREE	10352095, 11095444, 12161540, 12516090, 12517779, 12970324, 15200153, 16179927, 18174379, 18980667, 19237714, 19621386, 20558521, 20628030, 20842059, 21424122, 21610146, 22144504, 22503956, 22595794, 23098435, 24667963, 24667964, 24782509, 24863967, 24919573, 25069966, 25092647, 25492700, 25583818, 25621840, 25661872, 25701758, 25800760, 25879211, 26076051, 26195067, 26650177, 26799485, 26965523, 27080226, 27108064, 27145250, 27258611, 27803044, 27862333, 28202953, 28235763, 28436934, 28546503, 28676564, 28764683, 28856682, 29025766, 29061641, 29127433, 29245005, 29382784, 29387985, 29433552, 29464090, 29568411, 29579146, 29618658, 29720380, 29730057, 29769444, 29772559, 29849787, 29861325, 29959057, 30103457, 30108584, 30121627, 30201736, 30327605, 30510550, 30617136, 30649750, 30651858, 30659408, 30721445, 30734529, 30735463, 30744691, 30814732, 30842774, 30886654, 30889382, 30984613, 31004624, 31114587, 31161552, 31337787, 31355491, 31512325, 31582530, 31610848, 31621900, 31754328, 31779709, 31804974, 9329389		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	16608894, 24428838		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	10886547, 17018660, 17872384, 18446382, 19133942, 19887834, 20067903, 21183554, 21966463, 22107799, 22660550, 23864702, 24832896, 24992569, 26107257, 26272126, 27739473, 28609763, 29682741, 30407299, 30446806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	Pubtator	12733714, 23864702, 27739473, 29763933, 30407299, 31754202, 34772415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	21966463, 23864702, 34772415	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	12469911	Associate	★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	15173092		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19350667, 20842059, 23108190, 23533647, 27862333, 29207115, 30483473, 30617136, 30886654, 31293052, 31336912, 31398192		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19350667, 23533647	Associate	★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	30255569		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28261055		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	30703466		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	17876342		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30651858, 31741710		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16825189, 23330547, 24120622, 27129673, 27180240, 28792489, 29690611, 30227815		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22449852, 33076271, 35931812	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	35016442	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	31738973		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	19250271, 21785908		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	11323743, 12052452, 12574201, 12773131, 17117288, 17374704, 30834778, 31255926		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	16882283	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12221644, 15173092, 28321811, 30549299, 31705676, 9501005		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	30975191	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20628030, 26252839, 28272967, 28969098, 31686857		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	14997007		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23826131, 27108064, 29859625		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30121627, 31339230		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17078869, 23826131	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	14641934, 20798521, 37867141, 39172977	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	16497624, 17853337, 18680227, 20798521, 25069966, 9039332		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	16497624		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	GENOMICS_ENGLAND_DG	16497624		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	14641934, 18680227, 20798521, 32352720	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	14641934, 16497624, 18680227, 18938753, 19453252, 25090635, 9039332		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	LHGDN	18680227		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	30889382		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29025766		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10352095, 10713061, 10718832, 11889154, 19237714, 20846291, 21393447, 23660642, 23913941, 27872158, 7759551, 9854589		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	14694525, 19237714, 21240254		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	29618612, 7593455		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	10352095, 10718832, 17482347, 19237714, 21393447, 27760455, 27872158, 30690792		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	10352095, 10713061, 18492387, 21240254, 22166946, 27872158, 32609827, 33670622, 34054720, 36611251, 37065733	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28726961		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	29618658		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	24101400	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	24101400		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	11500234		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	31741710		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	18826972, 22669842		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	21082232		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	21082232, 30975191	Associate	★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	16313305, 17374709, 21865375, 23856265, 24423332, 28941288, 30358904, 30381479		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	20110422, 23585892, 24319203, 26961900, 29032733, 29171004, 30181581, 30198955, 30518999, 30551196, 30576834, 30695783, 30979721, 31092900, 31182121, 31754328		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27009300, 27865176, 28888074, 28988742, 29417201, 29716633, 29797659, 30120708, 30539476, 30651858, 31282760, 31428935		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31097020		★☆☆☆☆ Found in Text Mining only
Premature osteoarthritis	Premature osteoarthritis	BEFREE	10487661		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	31350326		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11016624, 16982748, 19237714, 20364112, 21703046, 23125333, 26407952, 26799485, 28235763, 31276858		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20364112, 23125333, 27115058, 27206800, 30808588	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23125333		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25854761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	16882283	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30462536		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30462536	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	20558521		★☆☆☆☆ Found in Text Mining only
Recurrent pancreatitis	Pancreatitis	BEFREE	9039332		★☆☆☆☆ Found in Text Mining only
Recurrent pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17682059, 29423418, 29644008		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30838870		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29038882		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27346252		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	17872384, 18446382		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25800760		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	19915295, 21471599	Associate	★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	1713910, 1887245		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	19105833		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	36982291	Associate	★☆☆☆☆ Found in Text Mining only
Splanchnic vein thrombosis	Splanchnic vein thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	17018660	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21532883		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25351569		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	30410362		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27180240, 29351922		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26153034, 28951460, 29849787, 31391530		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	1713910, 1887245		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	1713910, 1887245		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	29196452		★☆☆☆☆ Found in Text Mining only
Thyroid cancer Hurthle cell	Hurthle cell thyroid cancer	Pubtator	37837817	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	37837817	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11500234, 24454825, 31337787		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31337787		★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	29335257		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29183891, 29935762, 31804974		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35355564	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28320072		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	10886547, 25019182, 25705702, 27539983, 28609763		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	26994139	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	26436544	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	30769016	Inhibit	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	2476064		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	LHGDN	17473068		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	19839774, 25695075		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	25695075, 39624014	Associate	★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia with growth hormone deficiency	Agammaglobulinemia With Growth Hormone Deficiency, X-Linked	BEFREE	22234701		★☆☆☆☆ Found in Text Mining only