Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	476
Gene name	ATPase Na+/K+ transporting subunit alpha 1
Gene symbol	ATP1A1
Synonyms (NCBI Gene)	CMT2DDHOMGSMR2
Chromosome	1
Chromosome location	1p13.1
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

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11540945	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs724160008	TCTCAATGTTACTGT>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs724160010	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1401759980	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1553190285	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1557785499	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557785503	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

169

Show/Hide all (169)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016292	hsa-miR-193b-3p	Proteomics	21512034
MIRT019537	hsa-miR-340-5p	Sequencing	20371350
MIRT028862	hsa-miR-26b-5p	Microarray	19088304
MIRT052345	hsa-let-7b-5p	CLASH	23622248
MIRT050658	hsa-miR-18a-5p	CLASH	23622248
MIRT050108	hsa-miR-26a-5p	CLASH	23622248
MIRT049192	hsa-miR-92a-3p	CLASH	23622248
MIRT048687	hsa-miR-99a-5p	CLASH	23622248
MIRT048222	hsa-miR-196a-5p	CLASH	23622248
MIRT048123	hsa-miR-197-3p	CLASH	23622248
MIRT047825	hsa-miR-30d-5p	CLASH	23622248
MIRT046260	hsa-miR-23b-3p	CLASH	23622248
MIRT044531	hsa-miR-320a	CLASH	23622248
MIRT041714	hsa-miR-484	CLASH	23622248
MIRT041714	hsa-miR-484	CLASH	23622248
MIRT038912	hsa-miR-93-3p	CLASH	23622248
MIRT719044	hsa-miR-1911-3p	HITS-CLIP	19536157
MIRT719043	hsa-miR-6753-5p	HITS-CLIP	19536157
MIRT719042	hsa-miR-1250-5p	HITS-CLIP	19536157
MIRT719041	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT719040	hsa-miR-4746-3p	HITS-CLIP	19536157
MIRT719039	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT719038	hsa-miR-155-3p	HITS-CLIP	19536157
MIRT719037	hsa-miR-3685	HITS-CLIP	19536157
MIRT719036	hsa-miR-384	HITS-CLIP	19536157
MIRT719044	hsa-miR-1911-3p	HITS-CLIP	19536157
MIRT719043	hsa-miR-6753-5p	HITS-CLIP	19536157
MIRT719042	hsa-miR-1250-5p	HITS-CLIP	19536157
MIRT719041	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT719040	hsa-miR-4746-3p	HITS-CLIP	19536157
MIRT719039	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT719038	hsa-miR-155-3p	HITS-CLIP	19536157
MIRT719037	hsa-miR-3685	HITS-CLIP	19536157
MIRT719036	hsa-miR-384	HITS-CLIP	19536157
MIRT806833	hsa-miR-1250	CLIP-seq
MIRT806834	hsa-miR-1298	CLIP-seq
MIRT806835	hsa-miR-147	CLIP-seq
MIRT806836	hsa-miR-2115	CLIP-seq
MIRT806837	hsa-miR-221	CLIP-seq
MIRT806838	hsa-miR-222	CLIP-seq
MIRT806839	hsa-miR-2355-5p	CLIP-seq
MIRT806840	hsa-miR-2467-3p	CLIP-seq
MIRT806841	hsa-miR-3678-3p	CLIP-seq
MIRT806842	hsa-miR-369-3p	CLIP-seq
MIRT806843	hsa-miR-374a	CLIP-seq
MIRT806844	hsa-miR-374b	CLIP-seq
MIRT806845	hsa-miR-3911	CLIP-seq
MIRT806846	hsa-miR-3977	CLIP-seq
MIRT806847	hsa-miR-4286	CLIP-seq
MIRT806848	hsa-miR-431	CLIP-seq
MIRT806849	hsa-miR-4455	CLIP-seq
MIRT806850	hsa-miR-4499	CLIP-seq
MIRT806851	hsa-miR-4651	CLIP-seq
MIRT806852	hsa-miR-4668-3p	CLIP-seq
MIRT806853	hsa-miR-4731-3p	CLIP-seq
MIRT806854	hsa-miR-4801	CLIP-seq
MIRT806855	hsa-miR-516a-3p	CLIP-seq
MIRT806856	hsa-miR-548c-3p	CLIP-seq
MIRT806857	hsa-miR-574-5p	CLIP-seq
MIRT806858	hsa-miR-583	CLIP-seq
MIRT806859	hsa-miR-608	CLIP-seq
MIRT806860	hsa-miR-609	CLIP-seq
MIRT806861	hsa-miR-644	CLIP-seq
MIRT806862	hsa-miR-665	CLIP-seq
MIRT806863	hsa-miR-759	CLIP-seq
MIRT806864	hsa-miR-1180	CLIP-seq
MIRT806835	hsa-miR-147	CLIP-seq
MIRT806840	hsa-miR-2467-3p	CLIP-seq
MIRT806865	hsa-miR-3145-5p	CLIP-seq
MIRT806866	hsa-miR-3163	CLIP-seq
MIRT806841	hsa-miR-3678-3p	CLIP-seq
MIRT806842	hsa-miR-369-3p	CLIP-seq
MIRT806843	hsa-miR-374a	CLIP-seq
MIRT806844	hsa-miR-374b	CLIP-seq
MIRT806845	hsa-miR-3911	CLIP-seq
MIRT806867	hsa-miR-4326	CLIP-seq
MIRT806849	hsa-miR-4455	CLIP-seq
MIRT806868	hsa-miR-4497	CLIP-seq
MIRT806850	hsa-miR-4499	CLIP-seq
MIRT806869	hsa-miR-4528	CLIP-seq
MIRT806851	hsa-miR-4651	CLIP-seq
MIRT806870	hsa-miR-4664-3p	CLIP-seq
MIRT806852	hsa-miR-4668-3p	CLIP-seq
MIRT806853	hsa-miR-4731-3p	CLIP-seq
MIRT806854	hsa-miR-4801	CLIP-seq
MIRT806871	hsa-miR-520d-5p	CLIP-seq
MIRT806872	hsa-miR-524-5p	CLIP-seq
MIRT806856	hsa-miR-548c-3p	CLIP-seq
MIRT806857	hsa-miR-574-5p	CLIP-seq
MIRT806858	hsa-miR-583	CLIP-seq
MIRT806859	hsa-miR-608	CLIP-seq
MIRT806860	hsa-miR-609	CLIP-seq
MIRT806873	hsa-miR-622	CLIP-seq
MIRT806874	hsa-miR-630	CLIP-seq
MIRT806861	hsa-miR-644	CLIP-seq
MIRT806875	hsa-miR-663b	CLIP-seq
MIRT806863	hsa-miR-759	CLIP-seq
MIRT806876	hsa-miR-885-5p	CLIP-seq
MIRT806864	hsa-miR-1180	CLIP-seq
MIRT806833	hsa-miR-1250	CLIP-seq
MIRT806834	hsa-miR-1298	CLIP-seq
MIRT806836	hsa-miR-2115	CLIP-seq
MIRT806837	hsa-miR-221	CLIP-seq
MIRT806838	hsa-miR-222	CLIP-seq
MIRT806839	hsa-miR-2355-5p	CLIP-seq
MIRT806865	hsa-miR-3145-5p	CLIP-seq
MIRT806866	hsa-miR-3163	CLIP-seq
MIRT1938310	hsa-miR-3662	CLIP-seq
MIRT806846	hsa-miR-3977	CLIP-seq
MIRT806847	hsa-miR-4286	CLIP-seq
MIRT806848	hsa-miR-431	CLIP-seq
MIRT806867	hsa-miR-4326	CLIP-seq
MIRT806868	hsa-miR-4497	CLIP-seq
MIRT806850	hsa-miR-4499	CLIP-seq
MIRT806870	hsa-miR-4664-3p	CLIP-seq
MIRT806852	hsa-miR-4668-3p	CLIP-seq
MIRT806853	hsa-miR-4731-3p	CLIP-seq
MIRT806854	hsa-miR-4801	CLIP-seq
MIRT806855	hsa-miR-516a-3p	CLIP-seq
MIRT806871	hsa-miR-520d-5p	CLIP-seq
MIRT806872	hsa-miR-524-5p	CLIP-seq
MIRT806856	hsa-miR-548c-3p	CLIP-seq
MIRT806858	hsa-miR-583	CLIP-seq
MIRT806860	hsa-miR-609	CLIP-seq
MIRT806873	hsa-miR-622	CLIP-seq
MIRT806874	hsa-miR-630	CLIP-seq
MIRT806862	hsa-miR-665	CLIP-seq
MIRT2177674	hsa-miR-1193	CLIP-seq
MIRT806833	hsa-miR-1250	CLIP-seq
MIRT806834	hsa-miR-1298	CLIP-seq
MIRT806835	hsa-miR-147	CLIP-seq
MIRT806836	hsa-miR-2115	CLIP-seq
MIRT806837	hsa-miR-221	CLIP-seq
MIRT806838	hsa-miR-222	CLIP-seq
MIRT806839	hsa-miR-2355-5p	CLIP-seq
MIRT806840	hsa-miR-2467-3p	CLIP-seq
MIRT2177675	hsa-miR-3134	CLIP-seq
MIRT806841	hsa-miR-3678-3p	CLIP-seq
MIRT806845	hsa-miR-3911	CLIP-seq
MIRT806846	hsa-miR-3977	CLIP-seq
MIRT2177676	hsa-miR-4269	CLIP-seq
MIRT806847	hsa-miR-4286	CLIP-seq
MIRT2177677	hsa-miR-4290	CLIP-seq
MIRT806848	hsa-miR-431	CLIP-seq
MIRT806849	hsa-miR-4455	CLIP-seq
MIRT2177678	hsa-miR-4514	CLIP-seq
MIRT806851	hsa-miR-4651	CLIP-seq
MIRT2177679	hsa-miR-4687-5p	CLIP-seq
MIRT2177680	hsa-miR-4692	CLIP-seq
MIRT2177681	hsa-miR-4742-5p	CLIP-seq
MIRT806855	hsa-miR-516a-3p	CLIP-seq
MIRT806871	hsa-miR-520d-5p	CLIP-seq
MIRT806872	hsa-miR-524-5p	CLIP-seq
MIRT2177682	hsa-miR-548ac	CLIP-seq
MIRT2177683	hsa-miR-548ae	CLIP-seq
MIRT2177684	hsa-miR-548aj	CLIP-seq
MIRT2177685	hsa-miR-548am	CLIP-seq
MIRT2177686	hsa-miR-548d-3p	CLIP-seq
MIRT2177687	hsa-miR-548x	CLIP-seq
MIRT2177688	hsa-miR-548z	CLIP-seq
MIRT806857	hsa-miR-574-5p	CLIP-seq
MIRT806858	hsa-miR-583	CLIP-seq
MIRT806859	hsa-miR-608	CLIP-seq
MIRT806860	hsa-miR-609	CLIP-seq
MIRT2177689	hsa-miR-616	CLIP-seq
MIRT806861	hsa-miR-644	CLIP-seq
MIRT806875	hsa-miR-663b	CLIP-seq
MIRT806862	hsa-miR-665	CLIP-seq
MIRT806863	hsa-miR-759	CLIP-seq

100

Show/Hide all (100)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0002028	Process	Regulation of sodium ion transport	ISS
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IBA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IDA	10636900, 19542013
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IEA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IGI	18052210
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	ISS
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	TAS	1975705
GO:0005515	Function	Protein binding	IPI	11027149, 15671290, 16730713, 17220478, 18504258, 21228272, 21278788, 22084111, 25012180, 30021884, 33961781, 35271311, 35803952
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005886	Component	Plasma membrane	HDA	16791210
GO:0005886	Component	Plasma membrane	IDA	7711835, 18522992
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IGI	19751721
GO:0005886	Component	Plasma membrane	TAS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IBA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IDA	10636900, 19542013
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IEA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IGI	18052210
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IPI	35803952
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	ISS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	TAS	1975705
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IBA
GO:0006883	Process	Intracellular sodium ion homeostasis	IDA	10636900, 19542013
GO:0006883	Process	Intracellular sodium ion homeostasis	ISO
GO:0007231	Process	Osmosensory signaling pathway	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008556	Function	P-type potassium transmembrane transporter activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	NAS	24688018
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	TAS	1975705
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IDA	11193188
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	11193188
GO:0016791	Function	Phosphatase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	10636900
GO:0016887	Function	ATP hydrolysis activity	IEA
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, 19542013
GO:0030007	Process	Intracellular potassium ion homeostasis	ISO
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	IGI	19751721
GO:0030424	Component	Axon	IEA
GO:0030955	Function	Potassium ion binding	ISS
GO:0031090	Component	Organelle membrane	IGI	19751721
GO:0031402	Function	Sodium ion binding	ISS
GO:0031947	Process	Negative regulation of glucocorticoid biosynthetic process	IEA
GO:0032991	Component	Protein-containing complex	IDA	22797923
GO:0035725	Process	Sodium ion transmembrane transport	IGI	18052210
GO:0036126	Component	Sperm flagellum	IDA	16861705
GO:0036376	Process	Sodium ion export across plasma membrane	IBA
GO:0036376	Process	Sodium ion export across plasma membrane	IDA	10636900, 19542013
GO:0036376	Process	Sodium ion export across plasma membrane	ISO
GO:0036376	Process	Sodium ion export across plasma membrane	ISS
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0042470	Component	Melanosome	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045822	Process	Negative regulation of heart contraction	IEA
GO:0045823	Process	Positive regulation of heart contraction	IEA
GO:0045989	Process	Positive regulation of striated muscle contraction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051087	Function	Protein-folding chaperone binding	IPI	10636900
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0055119	Process	Relaxation of cardiac muscle	TAS	23224879
GO:0060047	Process	Heart contraction	IEA
GO:0060342	Component	Photoreceptor inner segment membrane	ISS	26373354
GO:0070062	Component	Extracellular exosome	HDA	12519789, 19199708, 20458337
GO:0071383	Process	Cellular response to steroid hormone stimulus	IDA	11546672
GO:0071805	Process	Potassium ion transmembrane transport	IGI	18052210
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	TAS	23224879
GO:0086009	Process	Membrane repolarization	IDA	19542013
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IC	19542013
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	19683723
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	NAS	24688018
GO:1903416	Process	Response to glycoside	IDA	11546672
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1990239	Function	Steroid hormone binding	IDA	14742675
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	10636900, 19542013
GO:1990573	Process	Potassium ion import across plasma membrane	ISO
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

MIM	HGNC	e!Ensembl
182310	799	ENSG00000163399

P05023

Protein name

Sodium/potassium-transporting ATPase subunit alpha-1 (Na(+)/K(+) ATPase alpha-1 subunit) (EC 7.2.2.13) (Sodium pump subunit alpha-1)

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

PDB

7E1Z , 7E20 , 7E21

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00690	Cation_ATPase_N	43 → 111	Cation transporter/ATPase, N-terminus	Domain
PF00122	E1-E2_ATPase	163 → 354		Family
PF13246	Cation_ATPase	426 → 521		Family
PF00689	Cation_ATPase_C	799 → 1008	Cation transporting ATPase, C-terminus	Family

Sequence

MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLS
RGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAA
TEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSI
NAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETR
NIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAV
FLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKN
LEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLA
LSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEI
PFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQN
AYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVP
DAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDA
KACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVN
DSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTL
TSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPK
TDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVED
SYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFE
ETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKE
TYY

Sequence length

1023

Interactions

View interactions

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aldosterone-producing adrenal cortex adenoma	Pathogenic	rs724160008, rs11540945, rs724160010	RCV000149850 RCV000149851 RCV000149853	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2A2	Pathogenic; Likely pathogenic	rs1553190285, rs1553192091, rs1553192086	RCV003311870 RCV003311871 RCV003311872 RCV003311873	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-tooth disease, axonal, type 2DD	Likely pathogenic; Pathogenic	rs1653241392, rs2101045655, rs2101055022, rs1553190285, rs1553192091, rs1553192086, rs1653448255	RCV001331357 RCV001528137 RCV002248975 RCV000656712 RCV000656713 RCV000656714 RCV000656715 RCV001290135 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypomagnesemia, seizures, and intellectual disability 2	Pathogenic; Likely pathogenic	rs1557785499, rs2525834257, rs1557785503, rs781629728, rs1570980551	RCV002251080 RCV004560512 RCV000754797 RCV000754798 RCV000754799 RCV000845571 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1653241392	RCV001800984	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1401759980	RCV000850471	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP1A1-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2DD	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESTIBULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)