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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23400
Gene name	ATPase cation transporting 13A2
Gene symbol	ATP13A2
Synonyms (NCBI Gene)	CLN12HSA9947KRPPDPARK9SPG78
Chromosome	1
Chromosome location	1p36.13
Summary	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript v

Show/Hide all (34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55943100	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs112549590	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs115985012	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs121918227	C>G	Pathogenic	Missense variant, coding sequence variant
rs138546275	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144557304	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144701072	C>T	Pathogenic	Coding sequence variant, missense variant
rs144708504	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs145515028	G>A	Conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, missense variant
rs149372969	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150519745	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199624796	G>A	Pathogenic	Missense variant, coding sequence variant
rs200587951	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs369863178	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs372993383	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373607247	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs377253172	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant
rs587776890	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777053	A>C	Pathogenic	Coding sequence variant, missense variant
rs749798211	CTGGGGAAGCAGG>-	Uncertain-significance, pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs758014228	A>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Splice donor variant, intron variant
rs759020707	T>A,G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs762033589	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs765632065	G>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs773246271	G>A	Pathogenic	Stop gained, coding sequence variant
rs786205056	C>T	Pathogenic	Intron variant
rs866035312	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1057519289	G>A	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1057519290	AGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1057519291	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1057519292	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057519293	G>A	Pathogenic	Stop gained, coding sequence variant
rs1303653650	G>A	Pathogenic	Coding sequence variant, stop gained
rs1570759415	GA>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041277	hsa-miR-193b-3p	CLASH	23622248
MIRT039758	hsa-miR-615-3p	CLASH	23622248
MIRT806646	hsa-miR-2681	CLIP-seq

100

Show/Hide all (100)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000421	Component	Autophagosome membrane	IEA
GO:0005515	Function	Protein binding	IPI	22645275, 27278822
GO:0005524	Function	ATP binding	IEA
GO:0005764	Component	Lysosome	IDA	16964263, 21542062, 24603074, 25392495
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	23499937, 26134396, 29505581
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS	25548531
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	25392495
GO:0005771	Component	Multivesicular body	IDA	24603074, 25392495
GO:0005771	Component	Multivesicular body	TAS	25548531
GO:0005776	Component	Autophagosome	IDA	24603074
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	22186024
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	26818499
GO:0006882	Process	Intracellular zinc ion homeostasis	IEA
GO:0006882	Process	Intracellular zinc ion homeostasis	IMP	24334770, 24603074
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IMP	27278822
GO:0007041	Process	Lysosomal transport	IMP	31996848
GO:0008270	Function	Zinc ion binding	ISS	22361905, 23202360
GO:0008289	Function	Lipid binding	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	27278822
GO:0010821	Process	Regulation of mitochondrion organization	IBA
GO:0010821	Process	Regulation of mitochondrion organization	IDA	22186024
GO:0010821	Process	Regulation of mitochondrion organization	IEA
GO:0010821	Process	Regulation of mitochondrion organization	IMP	22198378
GO:0012506	Component	Vesicle membrane	IEA
GO:0015203	Function	Polyamine transmembrane transporter activity	IBA
GO:0015203	Function	Polyamine transmembrane transporter activity	IDA	31996848
GO:0015417	Function	ABC-type polyamine transporter activity	IEA
GO:0015662	Function	P-type ion transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	16964263
GO:0016241	Process	Regulation of macroautophagy	IMP	22198378
GO:0016241	Process	Regulation of macroautophagy	TAS	22885599
GO:0016243	Process	Regulation of autophagosome size	IBA
GO:0016243	Process	Regulation of autophagosome size	IDA	22186024
GO:0016243	Process	Regulation of autophagosome size	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	NAS	24252804
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IBA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	TAS
GO:0030003	Process	Intracellular monoatomic cation homeostasis	TAS	25548531
GO:0030133	Component	Transport vesicle	IDA	22186024
GO:0030145	Function	Manganese ion binding	ISS	22361905, 23202360
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	29505581
GO:0031902	Component	Late endosome membrane	IEA
GO:0031982	Component	Vesicle	IDA	24603074
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0032585	Component	Multivesicular body membrane	NAS	24603074
GO:0033157	Process	Regulation of intracellular protein transport	NAS	24334770
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	26134396
GO:0034599	Process	Cellular response to oxidative stress	TAS	26392192
GO:0043005	Component	Neuron projection	IDA	22186024
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IDA	22186024
GO:0043025	Component	Neuronal cell body	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043523	Process	Regulation of neuron apoptotic process	ISS	23499937
GO:0046872	Function	Metal ion binding	IEA
GO:0050714	Process	Positive regulation of protein secretion	IMP	25392495
GO:0055088	Process	Lipid homeostasis	IMP	31132336
GO:0061462	Process	Protein localization to lysosome	IEA
GO:0061462	Process	Protein localization to lysosome	IMP	30538141
GO:0061909	Process	Autophagosome-lysosome fusion	IBA
GO:0061909	Process	Autophagosome-lysosome fusion	IEA
GO:0061909	Process	Autophagosome-lysosome fusion	IMP	30538141
GO:0070300	Function	Phosphatidic acid binding	IDA	26134396
GO:0071287	Process	Cellular response to manganese ion	IMP	22285144
GO:0071287	Process	Cellular response to manganese ion	TAS	23628791, 26392192
GO:0071294	Process	Cellular response to zinc ion	TAS	26392192
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	26134396
GO:0097734	Process	Extracellular exosome biogenesis	IMP	25392495
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0140358	Function	P-type transmembrane transporter activity	IEA
GO:1900180	Process	Regulation of protein localization to nucleus	IEA
GO:1900180	Process	Regulation of protein localization to nucleus	IMP	27278822
GO:1902047	Process	Polyamine transmembrane transport	IBA
GO:1902047	Process	Polyamine transmembrane transport	IDA	23205587
GO:1903135	Function	Cupric ion binding	ISS	23202360
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	25548531
GO:1903543	Process	Positive regulation of exosomal secretion	IDA	24603074
GO:1903543	Process	Positive regulation of exosomal secretion	IEA
GO:1903543	Process	Positive regulation of exosomal secretion	IMP	25392495
GO:1903710	Process	Spermine transmembrane transport	IMP	31996848
GO:1904714	Process	Regulation of chaperone-mediated autophagy	TAS	22885599
GO:1905037	Process	Autophagosome organization	IDA	22186024
GO:1905165	Process	Regulation of lysosomal protein catabolic process	IEA
GO:1905165	Process	Regulation of lysosomal protein catabolic process	IGI	24334770
GO:1905165	Process	Regulation of lysosomal protein catabolic process	IMP	23499937
GO:1905166	Process	Negative regulation of lysosomal protein catabolic process	TAS	22885599

MIM	HGNC	e!Ensembl
610513	30213	ENSG00000159363

Q9NQ11

Protein name

Polyamine-transporting ATPase 13A2 (EC 7.6.2.-)

Protein function

ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine (PubMed:31996848). Also stimulates cellular uptake of polyamines and protects against polyamine toxicity (PubMed:31996848). Plays a role in intracellular cation

PDB

7FJM , 7FJP , 7FJQ , 7M5V , 7M5X , 7M5Y , 7N70 , 7N72 , 7N73 , 7N74 , 7N75 , 7N76 , 7N77 , 7N78 , 7VPI , 7VPJ , 7VPK , 7VPL , 8IEK , 8IEL , 8IEM , 8IEN , 8IEO , 8IER , 8IES

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12409	P5-ATPase	31 → 176	P5-type ATPase cation transporter	Family
PF00122	E1-E2_ATPase	290 → 491		Family
PF00702	Hydrolase	507 → 788		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein leve

Sequence

MSADSSPLVGSTPTGYGTLTIGTSIDPLSSSVSSVRLSGYCGSPWRVIGYHVVVWMMAGI
PLLLFRWKPLWGVRLRLRPCNLAHAETLVIEIRDKEDSSWQLFTVQVQTEAIGEGSLEPS
PQSQAEDGRSQAAVGAVPEGAWKDTAQLHKSEEAVSVGQKRVLRYYLFQGQRYIWIETQQ
AFYQVSLLDHGRSCDDVHRSRHGLSLQDQMVRKAIYGPNVISIPVKSYPQLLVDEALNPY
YGFQAFSIALWLADHYYWYALCIFLISSISICLSLYKTRKQSQTLRDMVKLSMRVCVCRP
GGEEEWVDSSELVPGDCLVLPQEGGLMPCDAALVAGECMVNESSLTGESIPVLKTALPEG
LGPYCAETHRRHTLFCGTLILQARAYVGPHVLAVVTRTGFCTAKGGLVSSILHPRPINFK
FYKHSMKFVAALSVLALLGTIYSIFILYRNRVPLNEIVIRALDLVTVVVPPALPAAMTVC
TLYAQSRLRRQGIFCIHPLRINLGGKLQLVCFDKTGTLTEDGLDVMGVVPLKGQAFLPLV
PEPRRLPVGPLLRALATCHALSRLQDTPVGDPMDLKMVESTGWVLEEEPAADSAFGTQVL
AVMRPPLWEPQLQAMEEPPVPVSVLHRFPFSSALQRMSVVVAWPGATQPEAYVKGSPELV
AGLCNPETVPTDFAQMLQSYTAAGYRVVALASKPLPTVPSLEAAQQLTRDTVEGDLSLLG
LLVMRNLLKPQTTPVIQALRRTRIRAVMVTGDNLQTAVTVARGCGMVAPQEHLIIVHATH
PERGQPASLEFLPMESPTAVNGVKDPDQAASYTVEPDPRSRHLALSGPTFGIIVKHFPKL
LPKVLVQGTVFARMAPEQKTELVCELQKLQYCVGMCGDGANDCGALKAADVGISLSQAEA
SVVSPFTSSMASIECVPMVIREGRCSLDTSFSVFKYMALYSLTQFISVLILYTINTNLGD
LQFLAIDLVITTTVAVLMSRTGPALVLGRVRPPGALLSVPVLSSLLLQMVLVTGVQLGGY
FLTLAQPWFVPLNRTVAAPDNLPNYENTVVFSLSSFQYLILAAAVSKGAPFRRPLYTNVP
FLVALALLSSVLVGLVLVPGLLQGPLALRNITDTGFKLLLLGLVTLNFVGAFMLESVLDQ
CLPACLRRLRPKRASKKRFKQLERELAEQPWPPLPAGPLR

Sequence length

1180

Interactions

View interactions

	Reactome
			Ion transport by P-type ATPases

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ATP13A2-related disorder	Pathogenic	rs2523962293	RCV004550586	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive spastic paraplegia type 78	Likely pathogenic; Pathogenic	rs776448394, rs2076751251, rs1557666781, rs2100768788, rs2076949269, rs2077109424, rs2101042002, rs2100785804, rs771581490, rs1377055875, rs2100783138, rs1483668823, rs786205056, rs121918227, rs758150853 View all (38 more)	RCV001863238 RCV001333123 RCV001388838 RCV001388839 RCV003771646 View all (49 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kufor-Rakeb syndrome	Likely pathogenic; Pathogenic	rs776448394, rs1557666781, rs2100768788, rs2076949269, rs771581490, rs1377055875, rs2100783138, rs1483668823, rs786205056, rs2100817106, rs121918227, rs758150853, rs2523637901, rs1389678247, rs2523608853 View all (39 more)	RCV001331222 RCV001388838 RCV001388839 RCV003771646 RCV002038991 View all (50 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration with brain iron accumulation	Likely pathogenic; Pathogenic	rs121918227, rs2522710840, rs1334843918, rs1412349209, rs2523268622, rs765632065, rs758014228	RCV004766975 RCV002510343 RCV003111604 RCV003226841 RCV004701061 RCV001844194 RCV001269095 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (30)

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	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLN12 DISEASE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, SECONDARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic tetraparesis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (125)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	21362476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	22022275, 22847264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18759352, 30992063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	40424855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anarthria speech disorder	Anarthria Speech Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	22285144, 31588715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerotic Parkinsonism	Atherosclerotic Parkinsonism	CTD_human_DG	22285144		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATP13A2-related juvenile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical juvenile parkinsonism	Parkinsonian disease	BEFREE	20853184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29505581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	23046578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	BEFREE	18787878, 19297401, 19429112, 22296644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 78	Spastic Paraplegia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	31944623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	20310007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	20310007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis, Neuronal, Parry Type	Neuronal ceroid lipofuscinosis	CTD_human_DG	22022275, 22847264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	20853184, 22117566	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	GENOMICS_ENGLAND_DG	27165006, 27217339, 28137957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	28137957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16964263, 21665991, 22442086, 22885599, 24334770, 25900096, 31393918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	21665991, 22885599, 24334770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16964263, 17485642, 20683840, 20853184, 21060012, 21665991, 22198378, 22388936, 25149416, 25197640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	20669327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	20694531, 20817231, 22743658, 30692050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34382491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29859891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	27165006, 29859891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	27217339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21362476, 22117566, 25392495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	23212724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	22022275, 22847264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30250217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30250217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	22022275, 22847264		★★★★★ ★☆☆☆☆ Found in Text Mining only
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	CLINVAR_DG	16964263, 21060012, 21665991, 21696388, 22768177, 26633545		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	UNIPROT_DG	16964263, 17485642, 18413573, 20683840, 20853184, 21542062, 22296644, 22388936, 22768177, 28137957		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	BEFREE	17485642, 17620882, 19085912, 19705361, 20227461, 20683840, 21362476, 21542062, 21665991, 21696388, 21724849, 22117566, 22296644, 22388936, 22442086 View all (27 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	GENOMICS_ENGLAND_DG	21060012, 27165006, 28137957, 29859891		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	CTD_human_DG	22022275, 22768177, 22847264		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	ORPHANET_DG	22166458, 2276817		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kufor-Rakeb syndrome	Kufor-Rakeb Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora Disease	BEFREE	22803570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	22022275, 22847264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	38022627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	22647602, 22885599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	24252509	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26245297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29169913		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28334751		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24399444, 26134396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	40424855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28137957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28334751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20310007, 20694531, 20817231, 22266337, 22743658		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	20694531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22743658, 22847264, 27278822, 33799982, 34715014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20853184, 21362476, 22768177, 25197640, 29859891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	21362476, 22388936, 23393156, 25197640, 26965689, 28595912, 29407413, 29859891, 30956123, 31132336, 31588715		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	22022275, 22847264		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	27217339, 31944623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17485642, 17620882, 18045143, 18442138, 19015489, 19085912, 19409223, 19705361, 19943343, 20227461, 20483373, 20816920, 20976737, 21683120, 21714071 View all (37 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	17485642, 19015489		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	19085912, 22388936, 22457822, 22623900, 22647602, 22885599, 24252509, 24399444, 24742361, 25374329, 26134396, 26245297, 27217339, 27278822, 29966207 View all (17 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GENOMICS_ENGLAND_DG	21060012, 28137957		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	23628791, 25149416		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	35173238	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	22117566, 22743658		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	23046578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	19087301, 19097176, 19345671, 20669327, 20853184, 21665991, 22285144, 22388936, 22457822, 22885599, 23628791, 24334770, 27278822, 28131822, 30237140, 31132336, 31588715, 33799982 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	19097176, 20817231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease, Secondary Vascular	Parkinson Disease	CTD_human_DG	22285144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	14598065, 16964263, 17485642, 18785233, 19085912, 19087301, 19757210, 20669327, 20694531, 20817231, 20853184, 20938043, 21060012, 21542062, 21665991 View all (18 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	19097176, 20853184, 21665991, 22117566, 22623900, 22647602, 22743658, 22847264	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	23046578		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	17485642, 21316993, 31232173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	23046578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	31588715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	31588715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16964263, 21665991, 22442086, 22885599, 24334770, 25900096, 31393918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic episodes	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	23046578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Parkinson Disease	Parkinson disease	CTD_human_DG	22285144		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	31944623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	BEFREE	20694531		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	16964263, 21696388		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	27165006, 27217339, 28137957, 29859891		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	27217339, 28137957		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	27217339, 28137957, 29112700		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	28137957		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	20669327, 27165006, 31132336, 31588715, 31944623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia type 5A, recessive	Spastic paraplegia	BEFREE	20694531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	28137957, 29859891, 31132336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36065636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	20853184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Upgaze palsy	Upgaze palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical supranuclear gaze palsy	Supranuclear gaze palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	17485642, 19015489, 19705361, 24399444, 24949580, 29547664, 29966207, 30232368		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP13A2 (ATPase cation transporting 13A2)