KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)

Gene

• Entrez ID: 3778
• Gene name: Potassium calcium-activated channel subfamily M alpha 1
• Gene symbol: KCNMA1
• Synonyms (NCBI Gene): BKTM, CADEDS, IEG16, KCa1.1, LIWAS, MaxiK, PNKD3, SAKCA, SLO, SLO-ALPHA, SLO1, bA205K10.1, hSlo, mSLO1
• Chromosome: 10
• Chromosome location: 10q22.3
• Summary: MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229008	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs45617636	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs61736948	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant, 5 prime UTR variant, genic upstream transcript variant
rs77602559	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs137853333	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs139309224	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs147378590	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs149647577	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200474297	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant
rs368568833	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs748427000	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs760628050	CGCCGCCGC>-,CGC,CGCCGC,CGCCGCCGCCGC,CGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant, inframe insertion, genic upstream transcript variant
rs762705295	A>-,AA	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs780558929	->TGC	Conflicting-interpretations-of-pathogenicity	Inframe insertion, coding sequence variant, genic upstream transcript variant
rs863224885	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1328294721	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1407652513	G>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs1554829003	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1554841751	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1603639319	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005943	hsa-miR-211-5p	Microarray, LacZ reporter assay	21072171
MIRT005943	hsa-miR-211-5p	Microarray, LacZ reporter assay	21072171
MIRT440404	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440404	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT755615	hsa-miR-9-5p	Immunohistochemistry (IHC)	38502673
MIRT1081995	hsa-miR-1197	CLIP-seq
MIRT1081996	hsa-miR-1224-5p	CLIP-seq
MIRT1081997	hsa-miR-1253	CLIP-seq
MIRT1081998	hsa-miR-1257	CLIP-seq
MIRT1081999	hsa-miR-1343	CLIP-seq
MIRT1082000	hsa-miR-147	CLIP-seq
MIRT1082001	hsa-miR-15a	CLIP-seq
MIRT1082002	hsa-miR-15b	CLIP-seq
MIRT1082003	hsa-miR-16	CLIP-seq
MIRT1082004	hsa-miR-195	CLIP-seq
MIRT1082005	hsa-miR-1976	CLIP-seq
MIRT1082006	hsa-miR-205	CLIP-seq
MIRT1082007	hsa-miR-2682	CLIP-seq
MIRT1082008	hsa-miR-3119	CLIP-seq
MIRT1082009	hsa-miR-3150b-3p	CLIP-seq
MIRT1082010	hsa-miR-3192	CLIP-seq
MIRT1082011	hsa-miR-3611	CLIP-seq
MIRT1082012	hsa-miR-3646	CLIP-seq
MIRT1082013	hsa-miR-3663-5p	CLIP-seq
MIRT1082014	hsa-miR-3667-3p	CLIP-seq
MIRT1082015	hsa-miR-3672	CLIP-seq
MIRT1082016	hsa-miR-3919	CLIP-seq
MIRT1082017	hsa-miR-3921	CLIP-seq
MIRT1082018	hsa-miR-424	CLIP-seq
MIRT1082019	hsa-miR-4251	CLIP-seq
MIRT1082020	hsa-miR-433	CLIP-seq
MIRT1082021	hsa-miR-4421	CLIP-seq
MIRT1082022	hsa-miR-4428	CLIP-seq
MIRT1082023	hsa-miR-4434	CLIP-seq
MIRT1082024	hsa-miR-4481	CLIP-seq
MIRT1082025	hsa-miR-4494	CLIP-seq
MIRT1082026	hsa-miR-449c	CLIP-seq
MIRT1082027	hsa-miR-4516	CLIP-seq
MIRT1082028	hsa-miR-4534	CLIP-seq
MIRT1082029	hsa-miR-4653-5p	CLIP-seq
MIRT1082030	hsa-miR-4662a-5p	CLIP-seq
MIRT1082031	hsa-miR-4682	CLIP-seq
MIRT1082032	hsa-miR-4714-5p	CLIP-seq
MIRT1082033	hsa-miR-4738-3p	CLIP-seq
MIRT1082034	hsa-miR-4745-5p	CLIP-seq
MIRT1082035	hsa-miR-4751	CLIP-seq
MIRT1082036	hsa-miR-4756-3p	CLIP-seq
MIRT1082037	hsa-miR-4758-5p	CLIP-seq
MIRT1082038	hsa-miR-4784	CLIP-seq
MIRT1082039	hsa-miR-4797-3p	CLIP-seq
MIRT1082040	hsa-miR-4802-5p	CLIP-seq
MIRT1082041	hsa-miR-497	CLIP-seq
MIRT1082042	hsa-miR-505	CLIP-seq
MIRT1082043	hsa-miR-543	CLIP-seq
MIRT1082044	hsa-miR-548a-3p	CLIP-seq
MIRT1082045	hsa-miR-548ac	CLIP-seq
MIRT1082046	hsa-miR-548ae	CLIP-seq
MIRT1082047	hsa-miR-548aj	CLIP-seq
MIRT1082048	hsa-miR-548am	CLIP-seq
MIRT1082049	hsa-miR-548d-3p	CLIP-seq
MIRT1082050	hsa-miR-548e	CLIP-seq
MIRT1082051	hsa-miR-548f	CLIP-seq
MIRT1082052	hsa-miR-548x	CLIP-seq
MIRT1082053	hsa-miR-548z	CLIP-seq
MIRT1082054	hsa-miR-562	CLIP-seq
MIRT1082055	hsa-miR-599	CLIP-seq
MIRT1082056	hsa-miR-646	CLIP-seq
MIRT1082057	hsa-miR-758	CLIP-seq
MIRT1082058	hsa-miR-759	CLIP-seq
MIRT1082059	hsa-miR-765	CLIP-seq
MIRT1082060	hsa-miR-767-3p	CLIP-seq
MIRT1082061	hsa-miR-940	CLIP-seq
MIRT1082062	hsa-miR-1267	CLIP-seq
MIRT1082063	hsa-miR-1279	CLIP-seq
MIRT1082064	hsa-miR-3074-5p	CLIP-seq
MIRT1082065	hsa-miR-3663-3p	CLIP-seq
MIRT1082066	hsa-miR-548g	CLIP-seq
MIRT1082067	hsa-miR-582-3p	CLIP-seq
MIRT1082068	hsa-miR-3173-3p	CLIP-seq
MIRT1082022	hsa-miR-4428	CLIP-seq
MIRT1082069	hsa-miR-4803	CLIP-seq
MIRT1082070	hsa-miR-1915	CLIP-seq
MIRT1082007	hsa-miR-2682	CLIP-seq
MIRT1082071	hsa-miR-3714	CLIP-seq
MIRT1082072	hsa-miR-4476	CLIP-seq
MIRT1082073	hsa-miR-4495	CLIP-seq
MIRT1082026	hsa-miR-449c	CLIP-seq
MIRT1082074	hsa-miR-4726-3p	CLIP-seq
MIRT1082075	hsa-miR-548n	CLIP-seq
MIRT1082076	hsa-miR-548t	CLIP-seq
MIRT1556593	hsa-miR-4633-3p	CLIP-seq
MIRT2020385	hsa-miR-1236	CLIP-seq
MIRT1082063	hsa-miR-1279	CLIP-seq
MIRT1082000	hsa-miR-147	CLIP-seq
MIRT1082001	hsa-miR-15a	CLIP-seq
MIRT1082002	hsa-miR-15b	CLIP-seq
MIRT1082003	hsa-miR-16	CLIP-seq
MIRT2020386	hsa-miR-181a	CLIP-seq
MIRT2020387	hsa-miR-181b	CLIP-seq
MIRT2020388	hsa-miR-181c	CLIP-seq
MIRT2020389	hsa-miR-181d	CLIP-seq
MIRT1082004	hsa-miR-195	CLIP-seq
MIRT2020390	hsa-miR-224	CLIP-seq
MIRT2020391	hsa-miR-3140-3p	CLIP-seq
MIRT2020392	hsa-miR-3145-3p	CLIP-seq
MIRT2020393	hsa-miR-3151	CLIP-seq
MIRT2020394	hsa-miR-3165	CLIP-seq
MIRT1082010	hsa-miR-3192	CLIP-seq
MIRT1082012	hsa-miR-3646	CLIP-seq
MIRT2020395	hsa-miR-3691-5p	CLIP-seq
MIRT2020396	hsa-miR-3911	CLIP-seq
MIRT1082017	hsa-miR-3921	CLIP-seq
MIRT1082018	hsa-miR-424	CLIP-seq
MIRT2020397	hsa-miR-4262	CLIP-seq
MIRT2020398	hsa-miR-4283	CLIP-seq
MIRT2020399	hsa-miR-4302	CLIP-seq
MIRT2020400	hsa-miR-4307	CLIP-seq
MIRT2020401	hsa-miR-4324	CLIP-seq
MIRT2020402	hsa-miR-4329	CLIP-seq
MIRT2020403	hsa-miR-4420	CLIP-seq
MIRT1082021	hsa-miR-4421	CLIP-seq
MIRT2020404	hsa-miR-4435	CLIP-seq
MIRT2020405	hsa-miR-4473	CLIP-seq
MIRT2020406	hsa-miR-4477a	CLIP-seq
MIRT2020407	hsa-miR-4489	CLIP-seq
MIRT1556593	hsa-miR-4633-3p	CLIP-seq
MIRT1082029	hsa-miR-4653-5p	CLIP-seq
MIRT2020408	hsa-miR-4729	CLIP-seq
MIRT2020409	hsa-miR-4764-5p	CLIP-seq
MIRT2020410	hsa-miR-4773	CLIP-seq
MIRT2020411	hsa-miR-4778-3p	CLIP-seq
MIRT2020412	hsa-miR-483-3p	CLIP-seq
MIRT1082041	hsa-miR-497	CLIP-seq
MIRT2020413	hsa-miR-5096	CLIP-seq
MIRT2020414	hsa-miR-512-3p	CLIP-seq
MIRT2020415	hsa-miR-513a-3p	CLIP-seq
MIRT2020416	hsa-miR-520f	CLIP-seq
MIRT2020417	hsa-miR-541	CLIP-seq
MIRT2020418	hsa-miR-644	CLIP-seq
MIRT2020419	hsa-miR-654-5p	CLIP-seq
MIRT2020420	hsa-miR-671-5p	CLIP-seq
MIRT2020421	hsa-miR-942	CLIP-seq
MIRT2252156	hsa-miR-1245b-5p	CLIP-seq
MIRT1082062	hsa-miR-1267	CLIP-seq
MIRT2252157	hsa-miR-219-1-3p	CLIP-seq
MIRT2252158	hsa-miR-3142	CLIP-seq
MIRT2252159	hsa-miR-3182	CLIP-seq
MIRT2252160	hsa-miR-3978	CLIP-seq
MIRT2252161	hsa-miR-4261	CLIP-seq
MIRT2252162	hsa-miR-4310	CLIP-seq
MIRT2020405	hsa-miR-4473	CLIP-seq
MIRT2252163	hsa-miR-4652-3p	CLIP-seq
MIRT2020414	hsa-miR-512-3p	CLIP-seq
MIRT2020416	hsa-miR-520f	CLIP-seq
MIRT2252164	hsa-miR-571	CLIP-seq
MIRT2252165	hsa-miR-617	CLIP-seq
MIRT2252166	hsa-miR-645	CLIP-seq
MIRT2252167	hsa-miR-653	CLIP-seq
MIRT2252168	hsa-miR-890	CLIP-seq
MIRT2389667	hsa-miR-4639-3p	CLIP-seq
MIRT2452239	hsa-miR-106a	CLIP-seq
MIRT2452240	hsa-miR-106b	CLIP-seq
MIRT2452241	hsa-miR-1266	CLIP-seq
MIRT2452242	hsa-miR-1276	CLIP-seq
MIRT2452243	hsa-miR-1294	CLIP-seq
MIRT2452244	hsa-miR-17	CLIP-seq
MIRT2452245	hsa-miR-18a	CLIP-seq
MIRT2452246	hsa-miR-18b	CLIP-seq
MIRT2452247	hsa-miR-20a	CLIP-seq
MIRT2452248	hsa-miR-20b	CLIP-seq
MIRT2452249	hsa-miR-3127-5p	CLIP-seq
MIRT2452250	hsa-miR-3199	CLIP-seq
MIRT2452251	hsa-miR-3609	CLIP-seq
MIRT2452252	hsa-miR-3670	CLIP-seq
MIRT2452253	hsa-miR-3692	CLIP-seq
MIRT2452254	hsa-miR-3915	CLIP-seq
MIRT2452255	hsa-miR-3918	CLIP-seq
MIRT2452256	hsa-miR-3926	CLIP-seq
MIRT2452257	hsa-miR-3928	CLIP-seq
MIRT2452258	hsa-miR-4316	CLIP-seq
MIRT1082072	hsa-miR-4476	CLIP-seq
MIRT2452259	hsa-miR-4509	CLIP-seq
MIRT2452260	hsa-miR-4518	CLIP-seq
MIRT2452261	hsa-miR-4698	CLIP-seq
MIRT2452262	hsa-miR-4735-3p	CLIP-seq
MIRT2452263	hsa-miR-4744	CLIP-seq
MIRT2452264	hsa-miR-4796-3p	CLIP-seq
MIRT2452265	hsa-miR-510	CLIP-seq
MIRT2452266	hsa-miR-519d	CLIP-seq
MIRT2452267	hsa-miR-548ah	CLIP-seq
MIRT2452268	hsa-miR-93	CLIP-seq
MIRT2452241	hsa-miR-1266	CLIP-seq
MIRT2452242	hsa-miR-1276	CLIP-seq
MIRT2452249	hsa-miR-3127-5p	CLIP-seq
MIRT2452250	hsa-miR-3199	CLIP-seq
MIRT2452252	hsa-miR-3670	CLIP-seq
MIRT2452255	hsa-miR-3918	CLIP-seq
MIRT2452256	hsa-miR-3926	CLIP-seq
MIRT2452260	hsa-miR-4518	CLIP-seq
MIRT2452265	hsa-miR-510	CLIP-seq
MIRT2555509	hsa-miR-1237	CLIP-seq
MIRT2555510	hsa-miR-1248	CLIP-seq
MIRT2555511	hsa-miR-3140-5p	CLIP-seq
MIRT2555512	hsa-miR-4268	CLIP-seq
MIRT2555513	hsa-miR-4448	CLIP-seq
MIRT2555514	hsa-miR-4540	CLIP-seq
MIRT1082046	hsa-miR-548ae	CLIP-seq
MIRT1082047	hsa-miR-548aj	CLIP-seq
MIRT1082048	hsa-miR-548am	CLIP-seq
MIRT1082052	hsa-miR-548x	CLIP-seq
MIRT2555509	hsa-miR-1237	CLIP-seq
MIRT2555510	hsa-miR-1248	CLIP-seq
MIRT2452241	hsa-miR-1266	CLIP-seq
MIRT2452242	hsa-miR-1276	CLIP-seq
MIRT2020390	hsa-miR-224	CLIP-seq
MIRT2452249	hsa-miR-3127-5p	CLIP-seq
MIRT2555511	hsa-miR-3140-5p	CLIP-seq
MIRT2452250	hsa-miR-3199	CLIP-seq
MIRT2683242	hsa-miR-3653	CLIP-seq
MIRT2452252	hsa-miR-3670	CLIP-seq
MIRT2452255	hsa-miR-3918	CLIP-seq
MIRT2452256	hsa-miR-3926	CLIP-seq
MIRT2555512	hsa-miR-4268	CLIP-seq
MIRT2683243	hsa-miR-4291	CLIP-seq
MIRT2252162	hsa-miR-4310	CLIP-seq
MIRT2555513	hsa-miR-4448	CLIP-seq
MIRT2683244	hsa-miR-4502	CLIP-seq
MIRT2452260	hsa-miR-4518	CLIP-seq
MIRT2555514	hsa-miR-4540	CLIP-seq
MIRT2452265	hsa-miR-510	CLIP-seq
MIRT1082046	hsa-miR-548ae	CLIP-seq
MIRT1082047	hsa-miR-548aj	CLIP-seq
MIRT1082048	hsa-miR-548am	CLIP-seq
MIRT2683245	hsa-miR-548c-3p	CLIP-seq
MIRT1082052	hsa-miR-548x	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Unknown	21072171

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	15528406
GO:0003779	Function	Actin binding	IDA	15703204
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	7877450, 7993625, 11880513, 12388065
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	29330545, 31152168
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	10692449, 15528406, 15703204, 18287010, 20613726, 20959415, 22547800
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IDA	15703204
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	7573516, 7877450, 7993625, 11245614, 12388065, 17706472, 18458941
GO:0006813	Process	Potassium ion transport	IEA
GO:0006970	Process	Response to osmotic stress	IDA	10840032, 12388065
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	7573516, 7877450, 7993625
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	7573516, 7877450, 7993625, 11245614, 11880513, 17706472, 18458941
GO:0015269	Function	Calcium-activated potassium channel activity	IEA
GO:0016020	Component	Membrane	IDA	7573516, 7877450, 11880513
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	10840032
GO:0030007	Process	Intracellular potassium ion homeostasis	IDA	11245614
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034465	Process	Response to carbon monoxide	IDA	15528406
GO:0034465	Process	Response to carbon monoxide	IMP	18180950
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042311	Process	Vasodilation	IBA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042391	Process	Regulation of membrane potential	IDA	7877450, 7993625
GO:0042802	Function	Identical protein binding	IPI	20574420
GO:0043065	Process	Positive regulation of apoptotic process	IMP	11245614
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045794	Process	Negative regulation of cell volume	IDA	12388065
GO:0046872	Function	Metal ion binding	IEA
GO:0051592	Process	Response to calcium ion	IDA	12388065, 18458941
GO:0055085	Process	Transmembrane transport	IEA
GO:0060072	Function	Large conductance calcium-activated potassium channel activity	IBA
GO:0060072	Function	Large conductance calcium-activated potassium channel activity	IDA	7993625
GO:0060072	Function	Large conductance calcium-activated potassium channel activity	IMP	15703204
GO:0060073	Process	Micturition	IDA	11641143
GO:0060083	Process	Smooth muscle contraction involved in micturition	IDA	11641143
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 600150
• HGNC: 6284
• e!Ensembl: ENSG00000156113

Protein

• UniProt ID: Q12791
• Protein name: Calcium-activated potassium channel subunit alpha-1 (BK channel) (BKCA alpha) (Calcium-activated potassium channel, subfamily M subunit alpha-1) (K(VCA)alpha) (KCa1.1) (Maxi K channel) (MaxiK) (Slo-alpha) (Slo1) (Slowpoke homolog) (Slo homolog) (hSlo)
• Protein function: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+) (PubMed:14523450, PubMed:29330545, PubMed:31152168). It is also activated by the concentration of cytosolic Mg(2+). Its acti
• PDB: 2K44, 3MT5, 3NAF, 6ND0, 6V22, 6V35, 6V38, 6V3G, 6V5A, 7YNZ, 7YO0, 7YO1, 7YO2, 7YO3, 7YO4, 7YO5, 8GH9, 8GHF, 8GHG, 8V60, 8V63, 8V64, 8VAV, 8VAZ, 8Z3S, 9CZH, 9CZJ, 9CZK, 9CZM, 9CZO, 9CZQ, 9D18, 9D19, 9JO3, 9JO4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	178 → 397	Ion transport protein	Family
  PF03493	BK_channel_a	538 → 633	Calcium-activated BK potassium channel alpha subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Except in myocytes, it is almost ubiquitously expressed. {ECO:0000269|PubMed:11880513}.
• Sequence:

  MANGGGGGGGSSGGGGGGGGSSLRMSSNIHANHLSLDASSSSSSSSSSSSSSSSSSSSSS
  VHEPKMDALIIPVTMEVPCDSRGQRMWWAFLASSMVTFFGGLFIILLWRTLKYLWTVCCH
  CGGKTKEAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGVMISAQTLTGRVL
  VVLVFALSIGALVIYFIDSSNPIESCQNFYKDFTLQIDMAFNVFFLLYFGLRFIAANDKL
  WFWLEVNSVVDFFTVPPVFVSVYLNRSWLGLRFLRALRLIQFSEILQFLNILKTSNSIKL
  VNLLSIFISTWLTAAGFIHLVENSGDPWENFQNNQALTYWECVYLLMVTMSTVGYGDVYA
  KTTLGRLFMVFFILGGLAMFASYVPEIIELIGNRKKYGGSYSAVSGRKHIVVCGHITLES
  VSNFLKDFLHKDRDDVNVEIVFLHNISPNLELEALFKRHFTQVEFYQGSVLNPHDLARVK
  IESADACLILANKYCADPDAEDASNIMRVISIKNYHPKIRIITQMLQYHNKAHLLNIPSW
  NWKEGDDAICLAELKLGFIAQSCLAQGLSTMLANLFSMRSFIKIEEDTWQKYYLEGVSNE
  MYTEYLSSAFVGLSFPTVCELCFVKLKLLMIAIEYKSANRESRILINPGNHLKIQEGTLG
  FFIASDAKEVKRAFFYCKACHDDITDPKRIKKCGCKRPKMSIYKRMRRACCFDCGRSERD
  CSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAFEDEQPSTLSPKKKQRNGGMRNSPN
  TSPKLMRHDPLLIPGNDQIDNMDSNVKKYDSTGMFHWCAPKEIEKVILTRSEAAMTVLSG
  HVVVCIFGDVSSALIGLRNLVMPLRASNFHYHELKHIVFVGSIEYLKREWETLHNFPKVS
  ILPGTPLSRADLRAVNINLCDMCVILSANQNNIDDTSLQDKECILASLNIKSMQFDDSIG
  VLQANSQGFTPPGMDRSSPDNSPVHGMLRQPSITTGVNIPIITELVNDTNVQFLDQDDDD
  DPDTELYLTQPFACGTAFAVSVLDSLMSATYFNDNILTLIRTLVTGGATPELEALIAEEN
  ALRGGYSTPQTLANRDRCRVAQLALLDGPFADLGDGGCYGDLFCKALKTYNMLCFGIYRL
  RDAHLSTPSQCTKRYVITNPPYEFELVPTDLIFCLMQFDHNAGQSRASLSHSSHSSQSSS
  KKSSSVHSIPSTANRQNRPKSRESRDKQKYVQEERL

• Sequence length: 1236

Pathways

KEGG:

cGMP-PKG signaling pathway
Vascular smooth muscle contraction
Insulin secretion
Renin secretion
Salivary secretion
Pancreatic secretion

Reactome:

Ca2+ activated K+ channels

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
Autism spectrum disorder	Likely pathogenic	rs2551714172	RCV003127290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy, developmental delay, and seizures	Likely pathogenic; Pathogenic	rs1348741432, rs762705295, rs1328294721, rs2096271045	RCV003994697 RCV000504577 RCV000852286 RCV001260493	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy-paroxysmal dyskinesia syndrome	Pathogenic; Likely pathogenic	rs753408207, rs2093893902, rs2154251764, rs2090875352, rs2153792334, rs2152944295, rs2153773364, rs863224885, rs137853333, rs886039469, rs2549038309, rs2551593769, rs2550658119, rs1554966197, rs1565091862, rs2063502424, rs2065361594, rs2094531972	RCV001385175 RCV001988029 RCV001976650 RCV002009234 RCV001945420 RCV001923418 RCV002250063 RCV000200082 RCV000010034 RCV000504575 RCV003510556 RCV003510614 RCV003623493 RCV000504574 RCV000710351 RCV001065360 RCV001212768 RCV001300650	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs150678882, rs2049489016	RCV001252026 RCV001257729	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNMA1-related disorder	Likely pathogenic; Pathogenic	rs2090875352, rs2549937925, rs2551802036, rs150678882	RCV004553629 RCV004548662 RCV004552482 RCV001420997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liang-Wang syndrome	Likely pathogenic; Pathogenic	rs2153792212, rs1554829003, rs2153875876, rs150678882, rs2049489016	RCV002052154 RCV000991268 RCV000991269 RCV001775159 RCV002269354	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, idiopathic generalized, susceptibility to, 16	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GINGIVAL FIBROMATOSIS-AORTIC ROOT DILATATION-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile epileptic dyskinetic encephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC BONE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY, MORBID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NONKINESIGENIC DYSKINESIA 3 WITH OR WITHOUT GENERALIZED EPILEPSY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abducens Nerve Palsy	Abducens palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25796627		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30518785		★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	32080354	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphasia	Aphasia	Pubtator	29545233	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	31152168	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22074915, 27165430, 28428266	Associate	★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31152168, 35156297	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	31152168	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31674007, 35509069, 40483526	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31674007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16946189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	34368859, 35509069	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	20392804		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	33178487	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	31152168	Associate	★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19640305, 22899999, 29751615		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19640305, 22899999, 27973439, 29751615, 34181803	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31210304	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25848765	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26386726, 29725443		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28717008		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34499417	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20043229		★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	27567911		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	Cerebellar Atrophy, Developmental Delay, And Seizures	BEFREE	27567911		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	Cerebellar Atrophy, Developmental Delay, And Seizures	GENOMICS_ENGLAND_DG	27567911		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	Cerebellar Atrophy, Developmental Delay, And Seizures	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Diseases	Cerebellar diseases	Pubtator	29545233, 34499417	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16293791		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	29725443		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	34181803	Associate	★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	29545233, 31152168, 33178487, 35156297	Associate	★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	30361506		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30215859		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	29631575		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35156297	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10988242	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30791468		★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	18695509		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35156297	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	10405455		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	34563042	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21088011		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	24595210		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26632350		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29545233, 31152168, 34499417, 34563042, 35156297	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31152168		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17150299, 27574914		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17150299, 20859064, 27574914		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34563042	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	34563042	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35058920	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27574914, 29106399, 29850792		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	31152168	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	BEFREE	28090678, 29330545, 29545233		★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	19204046		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	32633875	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22899999		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35832124	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	19204046, 19204188, 29163049, 29330545, 29437015, 29623857, 31808001		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29330545, 29545233, 31152168, 31851553, 35156297	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	29924869	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	15937479		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	BEFREE	29924869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37353388	Associate	★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	31180985		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	17134370		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33660797	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	18854754		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	40233852	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	34499417	Associate	★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	BEFREE	24246574		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy and Paroxysmal Dyskinesia	Generalized Epilepsy and Paroxysmal Dyskinesia	BEFREE	15937479, 19204046, 31152168		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy and Paroxysmal Dyskinesia	Generalized Epilepsy and Paroxysmal Dyskinesia	UNIPROT_DG	15937479, 26195193		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy and Paroxysmal Dyskinesia	Generalized Epilepsy and Paroxysmal Dyskinesia	GENOMICS_ENGLAND_DG	15937479, 27567911		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy and Paroxysmal Dyskinesia	Generalized Epilepsy and Paroxysmal Dyskinesia	ORPHANET_DG	15937479		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy and Paroxysmal Dyskinesia	Generalized Epilepsy and Paroxysmal Dyskinesia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy and Paroxysmal Dyskinesia	Generalized Epilepsy and Paroxysmal Dyskinesia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Generalized epilepsy-paroxysmal dyskinesia syndrome	Epilepsy-Paroxysmal Dyskinesia Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingival Hypertrophy	Gingival diseases	Pubtator	34499417	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27606467		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36539587	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11880513, 12007141		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21072171	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	18695509		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34499417	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	31152168	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35368875	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15057299, 16116057, 18854754, 20861815		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	18854754		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	GWASCAT_DG	25108383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	14522958	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31486669		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	23508624		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30518785		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29370161, 29530986		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29545233, 31152168, 35156297, 35509069	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Failure, Chronic	Kidney Failure	BEFREE	30215859		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	31152168, 34499417	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	40483526	Associate	★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31415580	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19640305, 22899999, 24946238, 29751615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22899999		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26386726, 29725443		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17146446, 19229700, 22899999		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28231797		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22899999, 29725443, 29751615, 31575085		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21072171		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21072171	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	21157382		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	21157382, 32596316	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31808001		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27245839	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	CTD_human_DG	21695131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	LHGDN	15937479		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	32633875	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	35368875	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	32979043	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	16293791, 18854754, 21088011		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	18854754		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	31415580	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	27763639	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17146446, 20420713, 25796627, 28231797, 29725443		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36995317	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16396928		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31674007		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	25905915		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	18695509		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21708048, 29106399, 31480021		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	21708048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	21708048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	21708048, 37399741	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	27605626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	CTD_human_DG	21708048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	CTD_human_DG	21695131		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36717952	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18404672		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34181803	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26386726, 29725443		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22899999, 26386726	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	22899999		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27909246		★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	29545233	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	BEFREE	31427379		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	31427379		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	18695509		★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	23022480		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	30398975		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17146446, 19229700, 22899999		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17146446		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19229700, 21072171, 22899999, 23840433, 34948357	Associate	★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOALDOSTERONISM, TYPE IID	Pseudohypoaldosteronism	BEFREE	23885063		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34349187	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	29717024		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	12548550		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28428266, 29453198		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29545233	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29684444		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	31415580		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	10405455, 8209912		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	18695509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status epilepticus	Pubtator	33178487	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	18695509		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28231797		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31322220, 31888440	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30215859		★☆☆☆☆ Found in Text Mining only
Upgaze palsy	Upgaze palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28465407		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	35509069	Associate	★☆☆☆☆ Found in Text Mining only