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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	492
Gene name	ATPase plasma membrane Ca2+ transporting 3
Gene symbol	ATP2B3
Synonyms (NCBI Gene)	CFAP39CLA2OPCAPMCA3PMCA3aSCAX1
Chromosome	X
Chromosome location	Xq28
Summary	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150989590	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs368215361	C>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397514619	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs724160009	GCTGGT>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs724160011	CTGGTC>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs724160012	TCGTGG>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs782596945	G>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs1603040061	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT645896	hsa-miR-5193	HITS-CLIP	23824327
MIRT645897	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645895	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT645894	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT645893	hsa-miR-3909	HITS-CLIP	23824327
MIRT645892	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT645891	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT645889	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT645890	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT645888	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT645887	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT645886	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT645885	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT645884	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT645896	hsa-miR-5193	HITS-CLIP	23824327
MIRT645897	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645895	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT645894	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT645893	hsa-miR-3909	HITS-CLIP	23824327
MIRT645892	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT645891	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT645889	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT645890	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT645888	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT645887	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT645886	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT645885	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT645884	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT807664	hsa-miR-3144-3p	CLIP-seq
MIRT807665	hsa-miR-3187-3p	CLIP-seq
MIRT807666	hsa-miR-4435	CLIP-seq
MIRT807667	hsa-miR-455-5p	CLIP-seq
MIRT807668	hsa-miR-4643	CLIP-seq
MIRT807669	hsa-miR-4701-5p	CLIP-seq
MIRT807670	hsa-miR-4733-3p	CLIP-seq
MIRT807671	hsa-miR-548s	CLIP-seq
MIRT807672	hsa-miR-588	CLIP-seq
MIRT807673	hsa-miR-764	CLIP-seq
MIRT807674	hsa-miR-875-5p	CLIP-seq
MIRT807675	hsa-miR-296-5p	CLIP-seq
MIRT807676	hsa-miR-3918	CLIP-seq
MIRT2177846	hsa-miR-105	CLIP-seq
MIRT2177847	hsa-miR-1266	CLIP-seq
MIRT2177848	hsa-miR-3667-3p	CLIP-seq
MIRT2177849	hsa-miR-3682-5p	CLIP-seq
MIRT2177850	hsa-miR-4279	CLIP-seq
MIRT2177851	hsa-miR-4518	CLIP-seq
MIRT807667	hsa-miR-455-5p	CLIP-seq
MIRT2177852	hsa-miR-4659a-3p	CLIP-seq
MIRT2177853	hsa-miR-4659b-3p	CLIP-seq
MIRT2177854	hsa-miR-4778-3p	CLIP-seq
MIRT2177855	hsa-miR-767-3p	CLIP-seq
MIRT2177856	hsa-miR-942	CLIP-seq
MIRT2384618	hsa-miR-3121-5p	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005388	Function	P-type calcium transporter activity	IBA
GO:0005388	Function	P-type calcium transporter activity	IEA
GO:0005388	Function	P-type calcium transporter activity	TAS	8765088
GO:0005515	Function	Protein binding	IPI	18029012
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18029012
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8765088
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	IDA	18029012
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IDA	18029012
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	ISS
GO:0098978	Component	Glutamatergic synapse	IDA	18029012
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	18029012
GO:0098978	Component	Glutamatergic synapse	NAS	18029012
GO:0098982	Component	GABA-ergic synapse	IDA	18029012
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IMP	18029012
GO:0098982	Component	GABA-ergic synapse	NAS	18029012
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1903779	Process	Regulation of cardiac conduction	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1905056	Function	P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration	IDA	18029012
GO:1905056	Function	P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	18029012
GO:1905056	Function	P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration	NAS	18029012
GO:1990032	Component	Parallel fiber	ISS
GO:1990034	Process	Calcium ion export across plasma membrane	IDA	18029012, 22912398, 25953895

MIM	HGNC	e!Ensembl
300014	816	ENSG00000067842

Q16720

Protein name

Plasma membrane calcium-transporting ATPase 3 (PMCA3) (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 3) (Plasma membrane calcium pump isoform 3)

Protein function

ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals (PubMed:18029012, PubMed:22912398, PubMed:25953895, PubMed:27035656). Uses ATP as an energy source to transport cytosolic Ca

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00690	Cation_ATPase_N	51 → 121	Cation transporter/ATPase, N-terminus	Domain
PF00122	E1-E2_ATPase	190 → 306		Family
PF00122	E1-E2_ATPase	341 → 451		Family
PF13246	Cation_ATPase	516 → 612		Family
PF00689	Cation_ATPase_C	876 → 1058	Cation transporting ATPase, C-terminus	Family
PF12424	ATP_Ca_trans_C	1100 → 1146	Plasma membrane calcium transporter ATPase C terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the cerebellum (PubMed:8187550). Expressed in adrenal glands (PubMed:27035656). {ECO:0000269|PubMed:27035656, ECO:0000269|PubMed:8187550}.

Sequence

MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLC
RRLKTSPTEGLADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWEALQDVTLIILEVAAIV
SLGLSFYAPPGEESEACGNVSGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEK
QFRGLQSRIEQEQKFTVIRNGQLLQVPVAALVVGDIAQVKYGDLLPADGVLIQANDLKID
ESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEE
KKDKKGKQQDGAMESSQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKANAPKKEKSVL
QGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFII
GVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTT
NRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAISINSAYTTKILPPEKEGALPRQVG
NKTECALLGFVLDLKRDFQPVREQIPEDKLYKVYTFNSVRKSMSTVIRMPDGGFRLFSKG
ASEILLKKCTNILNSNGELRGFRPRDRDDMVRKIIEPMACDGLRTICIAYRDFSAGQEPD
WDNENEVVGDLTCIAVVGIEDPVRPEVPEAIRKCQRAGITVRMVTGDNINTARAIAAKCG
IIQPGEDFLCLEGKEFNRRIRNEKGEIEQERLDKVWPKLRVLARSSPTDKHTLVKGIIDS
TTGEQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDIILTDDNFTSIVKAVM
WGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTFASLALA
TEPPTESLLLRKPYGRDKPLISRTMMKNILGHAVYQLAIIFTLLFVGELFFDIDSGRNAP
LHSPPSEHYTIIFNTFVMMQLFNEINARKIHGERNVFDGIFSNPIFCTIVLGTFGIQIVI
VQFGGKPFSCSPLSTEQWLWCLFVGVGELVWGQVIATIPTSQLKCLKEAGHGPGKDEMTD
EELAEGEEEIDHAERELRRGQILWFRGLNRIQTQIRVVKAFRSSLYEGLEKPESKTSIHN
FMATPEFLINDYTHNIPLIDDTDVDENEERLRAPPPPSPNQNNNAIDSGIYLTTHVTKSA
TSSVFSSSPGSPLHSVETSL

Sequence length

1220

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 (5)

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	rs724160009, rs724160011, rs724160012	RCV000149852 RCV000149854 RCV000149855	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic	rs1603040061	RCV000855493	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1603040061	RCV000855493	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs782756404	RCV001647254	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked progressive cerebellar ataxia	Likely pathogenic	rs2124491843, rs782596945, rs397514619	RCV001420157 RCV001329442 RCV000033061	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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.
ATP2B3-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ 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
INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hypotonia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNGEAL DYSPHAGIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, X-LINKED 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, X-LINKED 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	BEFREE	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	26765578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	26481629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	26739091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aldosterone-Producing Adrenal Cortex Adenoma	Aldosterone-Producing Adrenal Cortex Adenoma	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31819190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	27632770, 28807751, 36207321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	6681442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12359307, 17321497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	22912398, 25953895, 27632770, 28807751, 36207321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	BEFREE	25953895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	28807751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	25424518, 25624344, 25906099, 26066391, 26351028, 26481629, 26807823, 27729216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	26125435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	26743443	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	7424977, 9213052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25953895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	9020386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign hypercalcemia	Hypocalciuric hypercalcemia	BEFREE	3160102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Granulomatous Disease	BEFREE	10392743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	36207321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	CTD_human_DG	23416519		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24082052, 24866132, 25906099, 26066391, 26252618, 26351028, 26743443, 26807823, 27729216, 30085035, 30739536, 31000732, 32002807, 32516371, 33677921, 33796077, 40302475 View all (2 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	BEFREE	26481629		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypersensitivity Delayed	Hypersensitivity	Pubtator	36207321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	23416519		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	28795531		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	12359307, 17321497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	26285814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type A	Niemann-Pick Disease	BEFREE	27620840		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Aldosterone-producing adenoma	Hyperaldosteronism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	28807751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	28807751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary adenoma	Papillary Adenoma	CTD_human_DG	23416519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	7424977, 9213052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	28807751		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, X-LINKED 1	Spinocerebellar Ataxia, X-Linked	GENOMICS_ENGLAND_DG	22912398		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, X-LINKED 1	Spinocerebellar Ataxia, X-Linked	UNIPROT_DG	22912398		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, X-LINKED 1	Spinocerebellar Ataxia, X-Linked	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, X-LINKED 1	Spinocerebellar Ataxia, X-Linked	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	8931700		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non progressive cerebellar ataxia	Cerebellar Ataxia, X-Linked	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked non progressive cerebellar ataxia	Cerebellar Ataxia, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)