ORAI1 (ORAI calcium release-activated calcium modulator 1)

Gene

• Entrez ID: 84876
• Gene name: ORAI calcium release-activated calcium modulator 1
• Gene symbol: ORAI1
• Synonyms (NCBI Gene): CRACM1, IMD9, ORAT1, TAM2, TMEM142A
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a caus

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203993	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777528	C>T	Pathogenic	Coding sequence variant, missense variant
rs782753385	T>C	Pathogenic	Missense variant, coding sequence variant
rs786204796	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs786204797	C>T	Pathogenic	Missense variant, coding sequence variant
rs786205890	C>A	Pathogenic	Missense variant, coding sequence variant
rs878853261	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555322558	->CCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC	Pathogenic	Frameshift variant, coding sequence variant
rs1555322610	C>G	Pathogenic	Missense variant, coding sequence variant
rs1594212582	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT616661	hsa-miR-3133	HITS-CLIP	23824327
MIRT616660	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT616659	hsa-miR-548u	HITS-CLIP	23824327
MIRT616658	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT616657	hsa-miR-8087	HITS-CLIP	23824327
MIRT616656	hsa-miR-4744	HITS-CLIP	23824327
MIRT616655	hsa-miR-4509	HITS-CLIP	23824327
MIRT616654	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT616653	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT616652	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT133316	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT133313	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT133316	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT133312	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT133317	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT133314	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT133321	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT133313	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT133321	hsa-miR-519d-3p	qRT-PCR	26792278
MIRT616661	hsa-miR-3133	HITS-CLIP	23824327
MIRT616660	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT616659	hsa-miR-548u	HITS-CLIP	23824327
MIRT616658	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT616657	hsa-miR-8087	HITS-CLIP	23824327
MIRT616656	hsa-miR-4744	HITS-CLIP	23824327
MIRT616655	hsa-miR-4509	HITS-CLIP	23824327
MIRT616654	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT616653	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT616652	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1204852	hsa-miR-106a	CLIP-seq
MIRT1204853	hsa-miR-106b	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204856	hsa-miR-1287	CLIP-seq
MIRT1204857	hsa-miR-1321	CLIP-seq
MIRT1204858	hsa-miR-139-3p	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204861	hsa-miR-17	CLIP-seq
MIRT1204862	hsa-miR-184	CLIP-seq
MIRT1204863	hsa-miR-20a	CLIP-seq
MIRT1204864	hsa-miR-20b	CLIP-seq
MIRT1204865	hsa-miR-298	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204867	hsa-miR-3135b	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204869	hsa-miR-3163	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204871	hsa-miR-329	CLIP-seq
MIRT1204872	hsa-miR-340	CLIP-seq
MIRT1204873	hsa-miR-3612	CLIP-seq
MIRT1204874	hsa-miR-362-3p	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204876	hsa-miR-3672	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204878	hsa-miR-377	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204881	hsa-miR-3941	CLIP-seq
MIRT1204882	hsa-miR-3973	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204885	hsa-miR-4419a	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204889	hsa-miR-4510	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204892	hsa-miR-4643	CLIP-seq
MIRT1204893	hsa-miR-4668-3p	CLIP-seq
MIRT1204894	hsa-miR-4695-5p	CLIP-seq
MIRT1204895	hsa-miR-4700-3p	CLIP-seq
MIRT1204896	hsa-miR-4726-3p	CLIP-seq
MIRT1204897	hsa-miR-4728-5p	CLIP-seq
MIRT1204898	hsa-miR-4739	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204900	hsa-miR-4756-5p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204902	hsa-miR-4768-5p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204906	hsa-miR-4804-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204908	hsa-miR-513a-3p	CLIP-seq
MIRT1204909	hsa-miR-519a	CLIP-seq
MIRT1204910	hsa-miR-519b-3p	CLIP-seq
MIRT1204911	hsa-miR-519c-3p	CLIP-seq
MIRT1204912	hsa-miR-519d	CLIP-seq
MIRT1204913	hsa-miR-520g	CLIP-seq
MIRT1204914	hsa-miR-520h	CLIP-seq
MIRT1204915	hsa-miR-548c-3p	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204917	hsa-miR-592	CLIP-seq
MIRT1204918	hsa-miR-597	CLIP-seq
MIRT1204919	hsa-miR-603	CLIP-seq
MIRT1204920	hsa-miR-607	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204924	hsa-miR-650	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204929	hsa-miR-93	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204856	hsa-miR-1287	CLIP-seq
MIRT1204857	hsa-miR-1321	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204862	hsa-miR-184	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204867	hsa-miR-3135b	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204869	hsa-miR-3163	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204871	hsa-miR-329	CLIP-seq
MIRT1204872	hsa-miR-340	CLIP-seq
MIRT1204873	hsa-miR-3612	CLIP-seq
MIRT1204874	hsa-miR-362-3p	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204876	hsa-miR-3672	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204881	hsa-miR-3941	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204885	hsa-miR-4419a	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204889	hsa-miR-4510	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204894	hsa-miR-4695-5p	CLIP-seq
MIRT1204895	hsa-miR-4700-3p	CLIP-seq
MIRT1204896	hsa-miR-4726-3p	CLIP-seq
MIRT1204897	hsa-miR-4728-5p	CLIP-seq
MIRT1204898	hsa-miR-4739	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204900	hsa-miR-4756-5p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204906	hsa-miR-4804-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204919	hsa-miR-603	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204924	hsa-miR-650	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT2391917	hsa-miR-3202	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002115	Process	Store-operated calcium entry	IBA
GO:0002115	Process	Store-operated calcium entry	IDA	16921383, 19182790, 26221052, 28219928, 32415068
GO:0002115	Process	Store-operated calcium entry	IEA
GO:0002115	Process	Store-operated calcium entry	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005262	Function	Calcium channel activity	IDA	31009446
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	17360584, 17442569, 17905723, 19182790, 19249086, 19706554, 19887627, 20418871, 20887894, 21408196, 21427704, 21876174, 22451904, 22464749, 22494970, 22586105, 23307288, 24954132, 24996186, 27185316, 28219928, 30481768, 30573509, 32415068, 33941685
GO:0005516	Function	Calmodulin binding	IEA
GO:0005886	Component	Plasma membrane	IDA	16645049, 16921383, 19171672, 19182790, 27185316, 28219928, 32415068
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0015279	Function	Store-operated calcium channel activity	IBA
GO:0015279	Function	Store-operated calcium channel activity	IDA	16645049, 16733527, 16766533, 16807233, 16921383, 17442569, 19182790, 23307288, 26221052, 28219928, 32415068, 33941685
GO:0015279	Function	Store-operated calcium channel activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IMP	33941685
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034704	Component	Calcium channel complex	ISS	31009446
GO:0042802	Function	Identical protein binding	IPI	18757751, 19249086, 20018736, 20194792, 24996186
GO:0044853	Component	Plasma membrane raft	IDA	19171672
GO:0045121	Component	Membrane raft	IDA	22494970
GO:0045762	Process	Positive regulation of adenylate cyclase activity	IDA	19171672
GO:0051924	Process	Regulation of calcium ion transport	IMP	16921383
GO:0051928	Process	Positive regulation of calcium ion transport	IDA	16645049, 16733527, 16766533, 16807233
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	31009446
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA

Other IDs

• MIM: 610277
• HGNC: 25896
• e!Ensembl: ENSG00000276045

Protein

• UniProt ID: Q96D31
• Protein name: Calcium release-activated calcium channel protein 1 (Protein orai-1) (Transmembrane protein 142A)
• Protein function: Pore-forming subunit of two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (Probable) (PubMed:16645049, PubMed:16733527,
• PDB: 2MAK, 4EHQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07856	Orai-1	71 → 267	Mediator of CRAC channel activity	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in naive CD4 and CD8 T cells (at protein level) (PubMed:26956484). Expressed at similar levels in naive and effector T helper cells (PubMed:20354224). {ECO:0000269|PubMed:20354224, ECO:0000269|PubMed:26956484}.
• Sequence:

  MHPEPAPPPSRSSPELPPSGGSTTSGSRRSRRRSGDGEPPGAPPPPPSAVTYPDWIGQSY
  SEVMSLNEHSMQALSWRKLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDADHDYPPGLL
  IAFSACTTVLVAVHLFALMISTCILPNIEAVSNVHNLNSVKESPHERMHRHIELAWAFST
  VIGTLLFLAEVVLLCWVKFLPLKKQPGQPRPTSKPPASGAAANVSTSGITPGQAAAIAST
  TIMVPFGLIFIVFAVHFYRSLVSHKTDRQFQELNELAEFARLQDQLDHRGDHPLTPGSHY
  A

• Sequence length: 301

Pathways

KEGG:

Calcium signaling pathway
cAMP signaling pathway
Platelet activation
Renin secretion
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome
Primary immunodeficiency

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
Combined immunodeficiency due to ORAI1 deficiency	Pathogenic; Likely pathogenic	rs2136852410, rs2136853046, rs1265366427, rs118203993, rs878853261, rs786205890, rs782753385, rs1555324160, rs1892793686, rs2503543510, rs782163275, rs1555322558, rs1594212582	RCV001381703 RCV002020275 RCV001979184 RCV000001346 RCV000172858 RCV000172859 RCV000172860 RCV003088778 RCV003787608 RCV003808197 RCV004555819 RCV000544520 RCV000792445	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy with tubular aggregates	Pathogenic	rs786204796	RCV004586590	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, tubular aggregate, 2	Pathogenic; Likely pathogenic	rs2136852410, rs2136853046, rs587777528, rs1265366427, rs786204796, rs782753385, rs1555324160, rs1892793686, rs2503543510, rs1555322610, rs1594212582	RCV001381703 RCV002020275 RCV000128581 RCV001979184 RCV000169690 RCV002517660 RCV003088778 RCV003787608 RCV003808197 RCV000509049 RCV000792445	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STRUCTURAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 9	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy, tubular aggregate, 1	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAI1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULAR AGGREGATE MYOPATHY	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	24583265		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	31043056		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22253717	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	28732182, 30114531		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	33907089	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	28027799, 29155098		★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	20004786, 20189884, 29155098		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	21674042		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26916730		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28258822, 31426853		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24808640	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28165446, 28656279		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26916730		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20189884, 22129055, 23475901, 24376610, 29155098		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	35636153	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30373149		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	30832225		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	29242293, 35636153	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21224390, 22495877, 26380267, 28114279, 29872495, 30216788, 30754719, 31652779		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20395295, 22778704, 26380267, 26690689, 30718673, 31647602, 35682546, 37399784	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	35081662	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31366337	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26191202		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24603752	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27247496	Associate	★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28544117, 31009360		★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	28743945, 29179176, 30453283		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	29155098		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	24808640	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24745010, 31281748		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30832225, 31014395		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30216703		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	29229703		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29753044, 31203007		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25143380	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26792278, 28114279		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	20004786		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	27063589, 29155098		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency due to ORAI1 deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	28126709		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27247496		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21873556		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21873556	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29587570		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29348776		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	22253717, 31600783	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	22253717, 28290212		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29555205, 31055088		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29654766		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29654766		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30543678	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30543678		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29654766		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29551286	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29203863, 29551286		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30373149		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	20004786, 29155098, 33650027	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	28732182		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22253717, 28290212		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26191202, 28928244, 29908962		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26191202, 28928244, 29908962		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26191202, 28928244	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28928244	Associate	★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	29555205		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28231736		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	28231736	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21945734, 23515871, 25580009		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23515871	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21945734, 23515871, 25580009		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25433371, 29732051		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25433371	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	29551286	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	24376610		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28126709		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29203863		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	19897708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	23224895, 28155613, 28403042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypopigmentation-immunodeficiency disease	Hypopigmentation-Immunodeficiency Disease	BEFREE	30778805		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29307746	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29351410	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 1	Immune dysfunction with T-cell inactivation	UNIPROT_DG	16147976, 16582901		★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 1	Immune dysfunction with T-cell inactivation	GENOMICS_ENGLAND_DG	16582901, 20004786		★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 1	Immune dysfunction with T-cell inactivation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 1	Immune dysfunction with T-cell inactivation	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 1	Immune dysfunction with T-cell inactivation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	BEFREE	20189884		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	24591628, 24808640		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	24808640, 25577287, 30778805	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16582901, 20004786, 30778805		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29348776		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28544117		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	21420116, 24800221		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	24745010	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31609248		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27865925, 35628366	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27878958		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26191202	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	20189884		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27777418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	21224390, 22495877, 26380267, 28114279, 29872495, 30216788, 30754719, 31652779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26191202, 28928244, 29908962		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26191202		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21364678, 26257076, 26445441		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27431311		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19185847, 26055321, 26257076, 27259269, 28928244, 29184031, 29368348, 29807219, 29908962, 30421677, 30921687, 31203007		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29753044, 31203007		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19185847, 28145580		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24472175, 25404747		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26055321, 30814332	Associate	★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	21487896, 26789410, 30853710, 31366996		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	26789410	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30114708		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30114708	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	23185465, 30414508		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	30382595		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	24591628, 25577287, 30382595, 30414508, 30421677, 30508734		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, TUBULAR AGGREGATE, 1	Myopathy	BEFREE	29732051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY, TUBULAR AGGREGATE, 1	Myopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY, TUBULAR AGGREGATE, 2	Myopathy	UNIPROT_DG	24591628, 28058752		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, TUBULAR AGGREGATE, 2	Myopathy	GENOMICS_ENGLAND_DG	25227914		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, TUBULAR AGGREGATE, 2	Myopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myotonia Congenita	Myotonia congenita	Pubtator	20004786	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	26492334		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21945734, 23108404, 24472175, 24797725, 26257076, 27247496, 27431311, 28803243, 29368348, 29908962, 30123430, 31753515		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	21420116, 24800221		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	24800221	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29807219		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31632961, 31815116		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26191202		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29587570	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	22198385		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31796725		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31796725	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25015419, 26584285	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24583265	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35081662, 35636153	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	37227782	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28545724		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35669690	Stimulate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30208327		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21364678, 26257076, 26445441		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21364678, 24240085, 26445441	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23049826	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	18832659		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	27291153, 27960157		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	27960157	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24808640, 28258822, 31426853		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	29634917		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	16582901, 17572487, 19075015, 19366689, 25918394, 26469693, 27063589, 28231751, 31600783		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	19075015, 19366689, 20037597, 21987804, 25918394, 28231751, 29155098, 31600783, 31816637, 37661687	Associate	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	21674042	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24797725, 28928244, 29908962		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29063902	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	27259269		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27431311		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stormorken Syndrome	Stormorken Syndrome	BEFREE	24591628, 28058752, 30243034, 30576443, 31009822		★☆☆☆☆ Found in Text Mining only
Stormorken Syndrome	Stormorken Syndrome	ORPHANET_DG	24591628		★☆☆☆☆ Found in Text Mining only
Stormorken Syndrome	Stormorken Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Stormorken-Sjaastad-Langslet syndrome	Stormorken-Sjaastad-Langslet Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	29242293	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29307746, 31652779		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29307746	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	23108404		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	24591628, 25227914, 26469693, 27882542, 28058752, 30243034, 30382595, 30576443, 31009822, 31448844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	ORPHANET_DG	24591628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tubular aggregate myopathy	Tubular Aggregate Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	21786201		★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only