ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)

Gene

• Entrez ID: 477
• Gene name: ATPase Na+/K+ transporting subunit alpha 2
• Gene symbol: ATP1A2
• Synonyms (NCBI Gene): DEE98, FARIMPD, FHM2, MHP2
• Chromosome: 1
• Chromosome location: 1q23.2
• Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933398	T>C	Pathogenic	Coding sequence variant, missense variant
rs28933399	T>C	Pathogenic	Coding sequence variant, missense variant
rs28933400	T>C	Pathogenic	Coding sequence variant, missense variant
rs28933401	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28934002	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs55741021	G>A,C	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121918612	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918613	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918614	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918615	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918616	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918617	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918618	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918619	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs121918620	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs142348542	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs143969080	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144106169	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146839867	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs147183887	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148929192	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149144720	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs149286529	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs187733403	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs370023134	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs373178892	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs529607288	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs574788908	C>A	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs751808345	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs755310507	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs757310141	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs765909830	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs777400961	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052277	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs869025341	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039530	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057521630	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794725	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796771	AGGGGTCGCTGTATTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307953	G>A	Likely-pathogenic	Intron variant
rs1165052640	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1226796744	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1414742926	G>A	Pathogenic	Missense variant, coding sequence variant
rs1553244022	G>A	Likely-pathogenic	Splice donor variant
rs1553244746	C>G	Pathogenic	Coding sequence variant, missense variant
rs1553244883	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553245178	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553245183	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553245659	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553245771	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553245857	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553245908	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553245943	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1558003446	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1558005340	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1558008455	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1558008759	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558010146	G>T	Pathogenic	Stop gained, coding sequence variant
rs1570988755	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1570990484	C>A	Pathogenic	Coding sequence variant, stop gained
rs1570998206	T>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003095	hsa-miR-122-5p	Luciferase reporter assay, qRT-PCR	19296470
MIRT048595	hsa-miR-100-5p	CLASH	23622248
MIRT047687	hsa-miR-10a-5p	CLASH	23622248
MIRT663269	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT663258	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT663268	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT663267	hsa-miR-3155a	HITS-CLIP	23824327
MIRT663266	hsa-miR-3155b	HITS-CLIP	23824327
MIRT663265	hsa-miR-484	HITS-CLIP	23824327
MIRT663264	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT663263	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT663262	hsa-miR-1281	HITS-CLIP	23824327
MIRT663261	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT663260	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT663259	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT663258	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT663257	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT663256	hsa-miR-548s	HITS-CLIP	23824327
MIRT663255	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT663254	hsa-miR-588	HITS-CLIP	23824327
MIRT663253	hsa-miR-4435	HITS-CLIP	23824327
MIRT663252	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT663251	hsa-miR-5096	HITS-CLIP	23824327
MIRT660449	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT660448	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT660447	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT660446	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT660445	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT660444	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT663269	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT663258	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT663268	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT663267	hsa-miR-3155a	HITS-CLIP	23824327
MIRT663266	hsa-miR-3155b	HITS-CLIP	23824327
MIRT663265	hsa-miR-484	HITS-CLIP	23824327
MIRT663264	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT663263	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT663262	hsa-miR-1281	HITS-CLIP	23824327
MIRT663261	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT663260	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT663259	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT663258	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT663257	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT663256	hsa-miR-548s	HITS-CLIP	23824327
MIRT663255	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT663254	hsa-miR-588	HITS-CLIP	23824327
MIRT663253	hsa-miR-4435	HITS-CLIP	23824327
MIRT663252	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT663251	hsa-miR-5096	HITS-CLIP	23824327
MIRT660449	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT660448	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT660447	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT660446	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT660445	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT660444	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT806877	hsa-miR-105	CLIP-seq
MIRT806878	hsa-miR-106a	CLIP-seq
MIRT806879	hsa-miR-106b	CLIP-seq
MIRT806880	hsa-miR-122	CLIP-seq
MIRT806881	hsa-miR-1234	CLIP-seq
MIRT806882	hsa-miR-150	CLIP-seq
MIRT806883	hsa-miR-17	CLIP-seq
MIRT806884	hsa-miR-1825	CLIP-seq
MIRT806885	hsa-miR-183	CLIP-seq
MIRT806886	hsa-miR-186	CLIP-seq
MIRT806887	hsa-miR-1912	CLIP-seq
MIRT740066	hsa-miR-1915	CLIP-seq
MIRT806888	hsa-miR-20a	CLIP-seq
MIRT806889	hsa-miR-20b	CLIP-seq
MIRT806890	hsa-miR-2113	CLIP-seq
MIRT806891	hsa-miR-2115	CLIP-seq
MIRT806892	hsa-miR-218	CLIP-seq
MIRT806893	hsa-miR-296-3p	CLIP-seq
MIRT806894	hsa-miR-302a	CLIP-seq
MIRT806895	hsa-miR-302b	CLIP-seq
MIRT806896	hsa-miR-302c	CLIP-seq
MIRT806897	hsa-miR-302d	CLIP-seq
MIRT806898	hsa-miR-302e	CLIP-seq
MIRT806899	hsa-miR-3121-3p	CLIP-seq
MIRT806900	hsa-miR-3133	CLIP-seq
MIRT806901	hsa-miR-3135b	CLIP-seq
MIRT806902	hsa-miR-3180-5p	CLIP-seq
MIRT806903	hsa-miR-3652	CLIP-seq
MIRT806904	hsa-miR-3667-3p	CLIP-seq
MIRT806905	hsa-miR-372	CLIP-seq
MIRT806906	hsa-miR-373	CLIP-seq
MIRT740069	hsa-miR-3925-3p	CLIP-seq
MIRT806907	hsa-miR-3945	CLIP-seq
MIRT806908	hsa-miR-4252	CLIP-seq
MIRT806909	hsa-miR-4253	CLIP-seq
MIRT806910	hsa-miR-4263	CLIP-seq
MIRT806911	hsa-miR-4297	CLIP-seq
MIRT806912	hsa-miR-433	CLIP-seq
MIRT806913	hsa-miR-4421	CLIP-seq
MIRT806914	hsa-miR-4430	CLIP-seq
MIRT806915	hsa-miR-4438	CLIP-seq
MIRT806916	hsa-miR-4685-5p	CLIP-seq
MIRT740067	hsa-miR-4690-3p	CLIP-seq
MIRT806917	hsa-miR-4731-5p	CLIP-seq
MIRT806918	hsa-miR-5095	CLIP-seq
MIRT806919	hsa-miR-511	CLIP-seq
MIRT806920	hsa-miR-512-3p	CLIP-seq
MIRT806921	hsa-miR-515-3p	CLIP-seq
MIRT806922	hsa-miR-516a-3p	CLIP-seq
MIRT806923	hsa-miR-519d	CLIP-seq
MIRT806924	hsa-miR-519e	CLIP-seq
MIRT806925	hsa-miR-520a-3p	CLIP-seq
MIRT806926	hsa-miR-520b	CLIP-seq
MIRT806927	hsa-miR-520c-3p	CLIP-seq
MIRT806928	hsa-miR-520d-3p	CLIP-seq
MIRT806929	hsa-miR-520e	CLIP-seq
MIRT806930	hsa-miR-520g	CLIP-seq
MIRT806931	hsa-miR-520h	CLIP-seq
MIRT740065	hsa-miR-555	CLIP-seq
MIRT806932	hsa-miR-564	CLIP-seq
MIRT806933	hsa-miR-616	CLIP-seq
MIRT806934	hsa-miR-636	CLIP-seq
MIRT806935	hsa-miR-640	CLIP-seq
MIRT740068	hsa-miR-766	CLIP-seq
MIRT806936	hsa-miR-93	CLIP-seq
MIRT1922577	hsa-miR-1251	CLIP-seq
MIRT1922578	hsa-miR-3529	CLIP-seq
MIRT1922579	hsa-miR-379	CLIP-seq
MIRT1922580	hsa-miR-3908	CLIP-seq
MIRT1922581	hsa-miR-3942-5p	CLIP-seq
MIRT1922582	hsa-miR-4703-5p	CLIP-seq
MIRT1922583	hsa-miR-4715-3p	CLIP-seq
MIRT1922584	hsa-miR-4766-3p	CLIP-seq
MIRT1938311	hsa-miR-129-5p	CLIP-seq
MIRT1938312	hsa-miR-3200-5p	CLIP-seq
MIRT1938313	hsa-miR-342-5p	CLIP-seq
MIRT1922578	hsa-miR-3529	CLIP-seq
MIRT1922579	hsa-miR-379	CLIP-seq
MIRT806908	hsa-miR-4252	CLIP-seq
MIRT1938314	hsa-miR-4451	CLIP-seq
MIRT1938315	hsa-miR-4505	CLIP-seq
MIRT1938316	hsa-miR-4650-3p	CLIP-seq
MIRT1938317	hsa-miR-4651	CLIP-seq
MIRT1938318	hsa-miR-4664-5p	CLIP-seq
MIRT1922583	hsa-miR-4715-3p	CLIP-seq
MIRT806917	hsa-miR-4731-5p	CLIP-seq
MIRT1938319	hsa-miR-4735-5p	CLIP-seq
MIRT1938320	hsa-miR-4775	CLIP-seq
MIRT1938321	hsa-miR-4794	CLIP-seq
MIRT1938322	hsa-miR-4795-3p	CLIP-seq
MIRT1938323	hsa-miR-485-5p	CLIP-seq
MIRT1938324	hsa-miR-498	CLIP-seq
MIRT1938325	hsa-miR-590-3p	CLIP-seq
MIRT1938326	hsa-miR-608	CLIP-seq
MIRT1938327	hsa-miR-892b	CLIP-seq
MIRT806878	hsa-miR-106a	CLIP-seq
MIRT806879	hsa-miR-106b	CLIP-seq
MIRT2177690	hsa-miR-1200	CLIP-seq
MIRT806881	hsa-miR-1234	CLIP-seq
MIRT1938311	hsa-miR-129-5p	CLIP-seq
MIRT806882	hsa-miR-150	CLIP-seq
MIRT806883	hsa-miR-17	CLIP-seq
MIRT806887	hsa-miR-1912	CLIP-seq
MIRT2177691	hsa-miR-1976	CLIP-seq
MIRT806888	hsa-miR-20a	CLIP-seq
MIRT806889	hsa-miR-20b	CLIP-seq
MIRT806894	hsa-miR-302a	CLIP-seq
MIRT806895	hsa-miR-302b	CLIP-seq
MIRT806896	hsa-miR-302c	CLIP-seq
MIRT806897	hsa-miR-302d	CLIP-seq
MIRT806898	hsa-miR-302e	CLIP-seq
MIRT806905	hsa-miR-372	CLIP-seq
MIRT806906	hsa-miR-373	CLIP-seq
MIRT2177692	hsa-miR-4279	CLIP-seq
MIRT2177693	hsa-miR-4324	CLIP-seq
MIRT806915	hsa-miR-4438	CLIP-seq
MIRT1922583	hsa-miR-4715-3p	CLIP-seq
MIRT2177694	hsa-miR-4722-3p	CLIP-seq
MIRT806917	hsa-miR-4731-5p	CLIP-seq
MIRT1938319	hsa-miR-4735-5p	CLIP-seq
MIRT1938320	hsa-miR-4775	CLIP-seq
MIRT1938321	hsa-miR-4794	CLIP-seq
MIRT1938324	hsa-miR-498	CLIP-seq
MIRT806918	hsa-miR-5095	CLIP-seq
MIRT806920	hsa-miR-512-3p	CLIP-seq
MIRT2177695	hsa-miR-513a-5p	CLIP-seq
MIRT806923	hsa-miR-519d	CLIP-seq
MIRT806925	hsa-miR-520a-3p	CLIP-seq
MIRT806926	hsa-miR-520b	CLIP-seq
MIRT806927	hsa-miR-520c-3p	CLIP-seq
MIRT806928	hsa-miR-520d-3p	CLIP-seq
MIRT806929	hsa-miR-520e	CLIP-seq
MIRT806930	hsa-miR-520g	CLIP-seq
MIRT806931	hsa-miR-520h	CLIP-seq
MIRT2177696	hsa-miR-544b	CLIP-seq
MIRT1938325	hsa-miR-590-3p	CLIP-seq
MIRT1938327	hsa-miR-892b	CLIP-seq
MIRT806936	hsa-miR-93	CLIP-seq
MIRT2444363	hsa-miR-3162-3p	CLIP-seq
MIRT2444364	hsa-miR-3194-5p	CLIP-seq
MIRT806904	hsa-miR-3667-3p	CLIP-seq
MIRT2444365	hsa-miR-4691-5p	CLIP-seq
MIRT740068	hsa-miR-766	CLIP-seq
MIRT2481088	hsa-miR-1254	CLIP-seq
MIRT806890	hsa-miR-2113	CLIP-seq
MIRT806891	hsa-miR-2115	CLIP-seq
MIRT806892	hsa-miR-218	CLIP-seq
MIRT2481089	hsa-miR-3116	CLIP-seq
MIRT2481090	hsa-miR-3152-5p	CLIP-seq
MIRT2481091	hsa-miR-3179	CLIP-seq
MIRT806904	hsa-miR-3667-3p	CLIP-seq
MIRT2481092	hsa-miR-3935	CLIP-seq
MIRT2481093	hsa-miR-4254	CLIP-seq
MIRT806913	hsa-miR-4421	CLIP-seq
MIRT2481094	hsa-miR-4761-3p	CLIP-seq
MIRT2481095	hsa-miR-4774-3p	CLIP-seq
MIRT2481096	hsa-miR-486-5p	CLIP-seq
MIRT806919	hsa-miR-511	CLIP-seq
MIRT806922	hsa-miR-516a-3p	CLIP-seq
MIRT2481097	hsa-miR-576-3p	CLIP-seq
MIRT806934	hsa-miR-636	CLIP-seq
MIRT2481098	hsa-miR-661	CLIP-seq
MIRT806890	hsa-miR-2113	CLIP-seq
MIRT806891	hsa-miR-2115	CLIP-seq
MIRT806892	hsa-miR-218	CLIP-seq
MIRT806904	hsa-miR-3667-3p	CLIP-seq
MIRT2481092	hsa-miR-3935	CLIP-seq
MIRT806913	hsa-miR-4421	CLIP-seq
MIRT2481096	hsa-miR-486-5p	CLIP-seq
MIRT806919	hsa-miR-511	CLIP-seq
MIRT806922	hsa-miR-516a-3p	CLIP-seq
MIRT2481097	hsa-miR-576-3p	CLIP-seq
MIRT806934	hsa-miR-636	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001504	Process	Neurotransmitter uptake	IEA
GO:0001504	Process	Neurotransmitter uptake	ISS
GO:0001662	Process	Behavioral fear response	IEA
GO:0001662	Process	Behavioral fear response	ISS
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IEA
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	ISS
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IBA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IDA	10636900
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IEA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IGI	18052210, 18728015, 20100892
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IMP	12539047, 23954377
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	ISS
GO:0005496	Function	Steroid binding	IPI	23954377
GO:0005515	Function	Protein binding	IPI	23954377
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	23954377
GO:0005737	Component	Cytoplasm	IDA	12539047
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12539047
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IGI	19372756, 19751721
GO:0005886	Component	Plasma membrane	TAS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IBA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IC	12539047
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IDA	10636900, 23954377
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IEA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IGI	18052210, 18728015, 20100892
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	ISS
GO:0005901	Component	Caveola	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	NAS	10642400
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	NAS	10642400
GO:0006883	Process	Intracellular sodium ion homeostasis	IBA
GO:0006883	Process	Intracellular sodium ion homeostasis	IDA	10636900
GO:0006937	Process	Regulation of muscle contraction	IEA
GO:0006937	Process	Regulation of muscle contraction	ISS
GO:0006940	Process	Regulation of smooth muscle contraction	IEA
GO:0006942	Process	Regulation of striated muscle contraction	IEA
GO:0006942	Process	Regulation of striated muscle contraction	IEA
GO:0006942	Process	Regulation of striated muscle contraction	NAS	10642400
GO:0007154	Process	Cell communication	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008542	Process	Visual learning	IEA
GO:0008556	Function	P-type potassium transmembrane transporter activity	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	23608603
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0010996	Process	Response to auditory stimulus	ISS
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IDA	23954377
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016791	Function	Phosphatase activity	ISS
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	23954377
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IDA	19372756
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IGI	20100892
GO:0019852	Process	L-ascorbic acid metabolic process	IEA
GO:0021764	Process	Amygdala development	IEA
GO:0021764	Process	Amygdala development	ISS
GO:0021989	Process	Olfactory cortex development	IEA
GO:0021989	Process	Olfactory cortex development	ISS
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	IBA
GO:0030007	Process	Intracellular potassium ion homeostasis	IDA	10636900
GO:0030007	Process	Intracellular potassium ion homeostasis	IMP	23954377
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	IGI	19751721
GO:0030955	Function	Potassium ion binding	IMP	23954377
GO:0031090	Component	Organelle membrane	IGI	19751721
GO:0031402	Function	Sodium ion binding	IMP	23954377
GO:0032991	Component	Protein-containing complex	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0035641	Process	Locomotory exploration behavior	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IGI	18052210
GO:0035864	Process	Response to potassium ion	IEA
GO:0036376	Process	Sodium ion export across plasma membrane	IBA
GO:0036376	Process	Sodium ion export across plasma membrane	IDA	10636900
GO:0036376	Process	Sodium ion export across plasma membrane	IGI	18728015, 20100892
GO:0036376	Process	Sodium ion export across plasma membrane	IMP	23954377
GO:0040011	Process	Locomotion	IEA
GO:0040011	Process	Locomotion	ISS
GO:0042383	Component	Sarcolemma	IEA
GO:0042596	Process	Fear response	IEA
GO:0042995	Component	Cell projection	IBA
GO:0042995	Component	Cell projection	IEA
GO:0042995	Component	Cell projection	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043197	Component	Dendritic spine	IEA
GO:0045822	Process	Negative regulation of heart contraction	IEA
GO:0045822	Process	Negative regulation of heart contraction	ISS
GO:0045823	Process	Positive regulation of heart contraction	ISS
GO:0045988	Process	Negative regulation of striated muscle contraction	IEA
GO:0046034	Process	ATP metabolic process	IMP	23954377
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051087	Function	Protein-folding chaperone binding	IPI	10636900
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IEA
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	ISS
GO:0051899	Process	Membrane depolarization	IEA
GO:0051946	Process	Regulation of glutamate uptake involved in transmission of nerve impulse	NAS	23954377
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	NAS	23954377
GO:0055119	Process	Relaxation of cardiac muscle	TAS	23224879
GO:0060048	Process	Cardiac muscle contraction	TAS	23224879
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071383	Process	Cellular response to steroid hormone stimulus	IDA	14742675
GO:0071383	Process	Cellular response to steroid hormone stimulus	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IGI	18052210, 18728015
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0086009	Process	Membrane repolarization	TAS	23954377
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	TAS	23608603
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	19683723
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	19372756
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1903170	Process	Negative regulation of calcium ion transmembrane transport	IEA
GO:1903170	Process	Negative regulation of calcium ion transmembrane transport	ISS
GO:1903416	Process	Response to glycoside	IC	14742675
GO:1903416	Process	Response to glycoside	IEA
GO:1903416	Process	Response to glycoside	ISS
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1990239	Function	Steroid hormone binding	IDA	14742675
GO:1990239	Function	Steroid hormone binding	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	10636900
GO:1990573	Process	Potassium ion import across plasma membrane	IMP	23954377

Other IDs

• MIM: 182340
• HGNC: 800
• e!Ensembl: ENSG00000018625

Protein

• UniProt ID: P50993
• Protein name: Sodium/potassium-transporting ATPase subunit alpha-2 (Na(+)/K(+) ATPase alpha-2 subunit) (EC 7.2.2.13) (Sodium pump subunit alpha-2)
• Protein function: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00690	Cation_ATPase_N	41 → 109	Cation transporter/ATPase, N-terminus	Domain
  PF00122	E1-E2_ATPase	161 → 352		Family
  PF13246	Cation_ATPase	424 → 518		Family
  PF00689	Cation_ATPase_C	796 → 1005	Cation transporting ATPase, C-terminus	Family

• Sequence:

  MGRGAGREYSPAATTAENGGGKKKQKEKELDELKKEVAMDDHKLSLDELGRKYQVDLSKG
  LTNQRAQDVLARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAAME
  DEPSNDNLYLGVVLAAVVIVTGCFSYYQEAKSSKIMDSFKNMVPQQALVIREGEKMQINA
  EEVVVGDLVEVKGGDRVPADLRIISSHGCKVDNSSLTGESEPQTRSPEFTHENPLETRNI
  CFFSTNCVEGTARGIVIATGDRTVMGRIATLASGLEVGRTPIAMEIEHFIQLITGVAVFL
  GVSFFVLSLILGYSWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLE
  AVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGATFDKRSPTWTALS
  RIAGLCNRAVFKAGQENISVSKRDTAGDASESALLKCIELSCGSVRKMRDRNPKVAEIPF
  NSTNKYQLSIHEREDSPQSHVLVMKGAPERILDRCSTILVQGKEIPLDKEMQDAFQNAYM
  ELGGLGERVLGFCQLNLPSGKFPRGFKFDTDELNFPTEKLCFVGLMSMIDPPRAAVPDAV
  GKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPMSQVNPREAKAC
  VVHGSDLKDMTSEQLDEILKNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSP
  ALKKADIGIAMGISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSN
  IPEITPFLLFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEAAESDIMKRQPRNSQTDK
  LVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPSRLLGIRLDWDDRTMNDLEDSYG
  QEWTYEQRKVVEFTCHTAFFASIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLLEETA
  LAAFLSYCPGMGVALRMYPLKVTWWFCAFPYSLLIFIYDEVRKLILRRYPGGWVEKETYY
  

• Sequence length: 1020

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
Alternating hemiplegia of childhood	Likely pathogenic	rs1651974671	RCV001258054	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood 1	Likely pathogenic; Pathogenic	rs770053423, rs1558009266, rs2101995480, rs765909830, rs28934002, rs121918615, rs181618883, rs1553245857, rs1553244746	RCV001331358 RCV001814601 RCV001777180 RCV002247600 RCV000013784 RCV003313029 RCV000678349 RCV002467848 RCV004526720	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATP1A2-related disorder	Pathogenic; Likely pathogenic	rs761168835, rs28934002, rs121918616, rs2524868404, rs2524854159, rs2524888314, rs181618883, rs1414742926	RCV004725349 RCV005249988 RCV004555532 RCV003404569 RCV003414232 RCV003911423 RCV003419835 RCV003419903	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy 98	Likely pathogenic; Pathogenic	rs2101996488, rs1553244881, rs796052277, rs1057521630, rs121918616, rs2524867724, rs181618883, rs1553245857, rs1553244883, rs777400961	RCV001777179 RCV005632305 RCV003152594 RCV003128284 RCV004819208 RCV003992134 RCV001777162 RCV005409659 RCV002496989 RCV003227494 RCV005256674	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs1570998206	RCV000853535	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemiplegic migraine	Pathogenic; Likely pathogenic	rs1469902667, rs770053423, rs775008062, rs1057518514, rs2101995864, rs1651548761, rs1209724722, rs2101989829, rs2101985522, rs2101988410, rs2101995847, rs2101986777, rs746383817, rs1219118149, rs2524868153, rs2524865483, rs2524899114, rs761168835, rs765909830, rs2524865640, rs2524857158, rs2524865450, rs2524891325, rs760155608, rs28933398, rs28933399, rs28934002, rs121918612, rs121918615, rs121918616, rs121918617, rs121918620, rs2524856473, rs2524887082, rs2524869946, rs2524857474, rs1421966486, rs2524888699, rs2524873236, rs534696343, rs2524887627, rs1651727299, rs2524899135, rs746362740, rs181618883, rs1165052640, rs1553245771, rs1553245857, rs1414742926, rs1553245659, rs1553245943, rs1558008455, rs1558008759, rs777400961, rs757310141, rs1570990484, rs1553245178, rs1570994712, rs1570998206, rs149144720, rs1651731153, rs1651730901, rs1651475047, rs1651944837, rs773117459	RCV001871779 RCV002546466 RCV001374157 RCV001384299 RCV001385318 RCV002542724 RCV001934455 RCV001869981 RCV001904450 RCV001908451 RCV002050721 RCV001949693 RCV002035152 RCV001975614 RCV002305054 RCV002648212 RCV002648213 RCV002663047 RCV003584560 RCV002825174 RCV002838028 RCV002838723 RCV002857265 RCV002917270 RCV003746665 RCV001533154 RCV001533155 RCV001229312 RCV001533152 RCV000529838 RCV001851832 RCV002513024 RCV001037466 RCV003585471 RCV003585460 RCV003585562 RCV003584110 RCV003584239 RCV003584241 RCV003587977 RCV005101422 RCV003746827 RCV003747021 RCV003746145 RCV003856193 RCV000533161 RCV000557101 RCV000688730 RCV000694302 RCV001385316 RCV001385317 RCV000716697 RCV003768048 RCV000693628 RCV001868323 RCV001861950 RCV000798070 RCV000802140 RCV000799726 RCV001858518 RCV000635222 RCV003584837 RCV001218848 RCV001229376 RCV001232119 RCV001248016	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	Likely pathogenic; Pathogenic	rs1403515889, rs760155608, rs2524887589, rs534696343, rs1553245857, rs1558010146, rs1558003446, rs1558008455, rs1558005340	RCV003317984 RCV003238158 RCV003313012 RCV003595849 RCV002496989 RCV001777172 RCV001777173 RCV001777174 RCV001777176	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migraine, familial basilar	Pathogenic	rs121918616	RCV000013789	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine, familial hemiplegic, 2	Pathogenic; Likely pathogenic	rs2101995864, rs2101996488, rs1558009266, rs1553244881, rs796052277, rs869025341, rs1057521630, rs28933398, rs28933399, rs28933400, rs28933401, rs121918612, rs121918613, rs121918615, rs121918616, rs121918617, rs121918620, rs2524837524, rs1651907319, rs1570995017, rs181618883, rs1553245771, rs1553245857, rs777400961, rs757310141, rs149144720, rs1651974671, rs1382260409	RCV002468636 RCV001777178 RCV001814601 RCV003147390 RCV000679915 RCV000207519 RCV003147842 RCV000013780 RCV000013781 RCV000013782 RCV000013783 RCV000013785 RCV000013786 RCV000013788 RCV003448245 RCV000013790 RCV000013793 RCV003989914 RCV003990531 RCV004017197 RCV000678349 RCV006252379 RCV002467848 RCV003128252 RCV001253026 RCV004593985 RCV001258054 RCV001290423	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polymicrogyria	Pathogenic	rs1558010146, rs1558003446	RCV000754579 RCV000754580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs2101995423	RCV001647244	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATP1A2-associated neurological disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEONATAL EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysphasia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fetal akinesia deformation sequence	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Headache	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiparesis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE, FAMILIAL TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE, WITHOUT MENTION OF INTRACTABLE MIGRAINE WITHOUT MENTION OF STATUS MIGRAINOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegic migraine-developmental and epileptic encephalopathy spectrum	Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodic paralysis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures, benign familial infantile, 3	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute encephalopathy	Encephalopathy	BEFREE	23761507		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	35177115	Associate	★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	BEFREE	15174025, 15534763, 28637637, 31608932		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Alternating Hemiplegia	ORPHANET_DG	15286158		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Alternating Hemiplegia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	33794876, 35177115, 36749827	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Alternating Hemiplegia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1	Alternating Hemiplegia	GENOMICS_ENGLAND_DG	12539047, 12953268, 18056581		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1	Alternating Hemiplegia	UNIPROT_DG	15174025		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1	Alternating Hemiplegia	BEFREE	30690204		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1	Alternating Hemiplegia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anxiety	Anxiety Disorder	BEFREE	29391390		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	23761507	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG	30690204		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	30690204		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31586957	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	19454485	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19058785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19058785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Crisis	Blast crisis	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33493807, 36749827, 39667411	Associate	★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	36749827	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33960436	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	GENOMICS_ENGLAND_DG	19838529		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39667411	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	16157018, 23954377, 26747084		★☆☆☆☆ Found in Text Mining only
Confusion	Confusion	Pubtator	23761507	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	15174025, 17236110		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	32233732	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33557955, 33794876, 36749827, 39667411	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dystonia	Dystonia	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	19838529		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28445178		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15907261, 18028407, 18498390, 18644608, 23838748, 23918834, 24097848, 28058944, 28527083, 28811059		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	LHGDN	18028407, 18644608		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	18028407, 22661290, 30185235, 30977854, 33493807, 33711927, 34384358	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG	30690204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
epilepsy and migraine	Epilepsy And Migraine	GENOMICS_ENGLAND_DG	12953268		★☆☆☆☆ Found in Text Mining only
epilepsy and migraine	Epilepsy And Migraine	BEFREE	18028407		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	26003227		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	24286483		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	10686557		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33557955, 39667411	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	16116111		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	BEFREE	16866717		★☆☆☆☆ Found in Text Mining only
Episodic quadriplegia	Episodic quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	12953268, 15021241		★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	GENOMICS_ENGLAND_DG	12953268		★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	12119109, 12953268, 14624354, 15021241, 15174025, 15557518, 16026932, 16088919, 16110494, 16178956, 16508934, 16508935, 16538223, 16567706, 16822249, 17473835, 17952365, 18028407, 18028456, 18184292, 18451712, 18498390, 18728015, 19007941, 19332696, 19372756, 20236346, 21855646, 22759692, 23561701, 23761507, 23838748, 23918834, 24096472, 25411546, 28185542, 28637637, 30768809		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Hemiplegic Migraine	Hemiplegic Migraine	CLINVAR_DG	19874388, 20837964, 21352219, 24921013		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial or sporadic hemiplegic migraine	Hemiplegic Migraine	Orphanet			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	28527083		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	BEFREE	29867740		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	40527859	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33607293	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25138102	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	25138102	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine familial type 1	Hemiplegic migraine	Pubtator	30167989	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine familial type 2	Hemiplegic migraine	Pubtator	15843000, 17727731, 18361423, 22661290, 23954377, 33711927, 33882852, 34384358, 36749827	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	BEFREE	12119109, 12601705, 15174025, 15534763, 15549578, 15557518, 15907261, 16026932, 16088919, 16344534, 16472340, 16508935, 16538223, 17119788, 17142831, 17397047, 17727731, 17877748, 18028407, 18184292, 18451712, 19007941, 19372756, 20236346, 22013243, 23838748, 23918834, 23954377, 24707016, 25411546, 25948653, 27226003, 27919014		★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	CLINVAR_DG	18028407, 19458722, 24921013, 27864847		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	39684755	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	30690204		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	30690204		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	CLINVAR_DG	30690204		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	16166162, 16243970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	GENOMICS_ENGLAND_DG	18056581		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	30423015		★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	15911117		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	15159495		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16437583, 24096472		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34384358, 35110381	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	30690204		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	36749827	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16437583, 24096472		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	30690204		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GENOMICS_ENGLAND_DG	12539047, 12953268		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	14624354, 15210532, 16080125, 16110494, 16157018, 16508935, 23030542, 23561701, 23761507, 23838748, 23918834, 24286483, 25138102, 26747084, 29956301, 30768809		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	16080125, 18028407, 25138102, 39781574	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	LHGDN	16110494, 18028407, 18028456, 18184292, 18498390, 18513263, 18644608		★☆☆☆☆ Found in Text Mining only
Migraine Familial Basilar	Migraine	Pubtator	25138102	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Familial Hemiplegic 3	Migraine	Pubtator	39781574	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Sporadic Hemiplegic	Migraine	Pubtator	33882852	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	LHGDN	12953268, 15159495, 16037212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	BEFREE	14624354, 15985592, 16110494, 16157018, 16508934, 16508935, 17395138, 26747084, 28445178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine	Pubtator	15843000, 16080125, 16822249, 17435187, 18028407, 18056581, 18846413, 22661290, 23761507, 23954377, 28185542, 28593511, 31586957, 31980564, 32233732, 33126486, 33493807, 33711927, 33882852, 34229663, 34320921, 34384358, 39667411	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine without Aura	Migraine	Pubtator	18028407, 23954377	Associate	★☆☆☆☆ Found in Text Mining only
Migraine, Familial Basilar	Migraine	BEFREE	16344534		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine, Familial Basilar	Migraine	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	BEFREE	12539047, 15133718, 17727731, 18028456, 18294248, 18361423, 21731499, 22759692, 24096472, 27226003, 29041816, 30446731, 30690204, 30819023, 31766058		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	UNIPROT_DG	12539047, 12953268, 21352219, 23838748, 23918834		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	GENOMICS_ENGLAND_DG	12539047, 12953268, 18056581, 19838529, 29610157		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	CTD_human_DG	23954377		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIGRAINE, SPORADIC HEMIPLEGIC	Migraine, sporadic hemiplegic	BEFREE	18451712, 18483709, 18513263, 18644608, 18728015, 20837964, 21352219, 29867740		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	1361034, 14667076, 15174025, 15286158, 16088919, 16344534, 17473835, 20837964, 23918834, 25138102, 27864847, 28811059		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	39667411	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	25338682	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22117059		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22253825	Inhibit	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	29867740		★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	33882852	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Psychotic Disorders	Psychotic disorders	Pubtator	22661290	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	16822249, 33557955, 33794876, 35110381	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	36749827	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29351916		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	15174025, 17236110		★☆☆☆☆ Found in Text Mining only