ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)

Gene

• Entrez ID: 478
• Gene name: ATPase Na+/K+ transporting subunit alpha 3
• Gene symbol: ATP1A3
• Synonyms (NCBI Gene): AHC2, ATP1A1, CAPOS, DEE99, DYT12, RDP
• Chromosome: 19
• Chromosome location: 19q13.2
• 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
rs80356532	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs80356533	C>T	Pathogenic	Coding sequence variant, missense variant
rs80356535	A>C	Pathogenic	Coding sequence variant, missense variant
rs80356536	A>G	Pathogenic	Coding sequence variant, missense variant
rs80356537	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs146600566	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150943961	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs180749411	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200891944	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267606670	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs369853936	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, intron variant
rs387907281	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907282	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515382	->TAG	Pathogenic	Inframe insertion, terminator codon variant
rs397515577	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515578	CAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs398122887	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs534926223	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs536681257	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs542652468	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs549006436	A>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs557052809	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs557939077	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs573535377	G>T	Pathogenic	Missense variant, coding sequence variant
rs587777771	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231427	T>A	Pathogenic	Coding sequence variant, missense variant
rs606231428	A>T	Pathogenic	Coding sequence variant, missense variant
rs606231430	C>A	Pathogenic	Coding sequence variant, missense variant
rs606231431	T>G	Pathogenic	Coding sequence variant, missense variant
rs606231432	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231433	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231434	C>G	Pathogenic	Coding sequence variant, missense variant
rs606231435	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231436	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231437	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs606231438	G>A	Pathogenic	Coding sequence variant, missense variant
rs606231439	G>C	Pathogenic	Coding sequence variant, missense variant
rs606231440	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs606231441	C>T	Pathogenic	Splice donor variant
rs606231442	C>T	Pathogenic	Coding sequence variant, missense variant
rs606231443	GAC>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs606231444	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs606231445	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs606231446	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231447	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231448	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231449	A>G	Pathogenic	Coding sequence variant, missense variant
rs781822752	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs781928217	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782082118	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs782175860	C>T	Pathogenic	Missense variant, coding sequence variant
rs782312004	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs782717865	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797044897	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863224847	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs864309572	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320661	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255368	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs886041396	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs886041431	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057516032	AGTCT>GA	Pathogenic	Coding sequence variant, inframe indel
rs1064795234	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795403	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1064797245	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1085307933	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1085307992	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691307	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691813	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691940	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401821	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401822	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555859144	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555859157	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555859571	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555859593	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555865385	GAG>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion
rs1555865401	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568853466	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599705281	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599706511	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599706522	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599712456	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599712523	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599719527	AGGTTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1599719534	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599725621	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029518	hsa-miR-26b-5p	Microarray	19088304
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626510	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT626509	hsa-miR-4286	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626503	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626502	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626510	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT626509	hsa-miR-4286	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626503	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626502	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT806937	hsa-miR-1275	CLIP-seq
MIRT806938	hsa-miR-2861	CLIP-seq
MIRT806939	hsa-miR-3191	CLIP-seq
MIRT806940	hsa-miR-361-3p	CLIP-seq
MIRT806941	hsa-miR-4268	CLIP-seq
MIRT806942	hsa-miR-4271	CLIP-seq
MIRT806943	hsa-miR-4525	CLIP-seq
MIRT806944	hsa-miR-4665-5p	CLIP-seq
MIRT806945	hsa-miR-4723-5p	CLIP-seq
MIRT806946	hsa-miR-4725-3p	CLIP-seq
MIRT806947	hsa-miR-625	CLIP-seq
MIRT806948	hsa-miR-637	CLIP-seq
MIRT806949	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001540	Function	Amyloid-beta binding	IDA	26224839
GO:0001540	Function	Amyloid-beta binding	TAS	26871627
GO:0001917	Component	Photoreceptor inner segment	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	IMP	15260953
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	NAS	26224839
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	15260953
GO:0005783	Component	Endoplasmic reticulum	IDA	15260953
GO:0005794	Component	Golgi apparatus	IDA	15260953
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15260953
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	IC	15260953
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IDA	10636900
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IEA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	NAS	26224839
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
GO:0008556	Function	P-type potassium transmembrane transporter activity	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	NAS	15260953
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
GO:0030424	Component	Axon	IDA	26224839
GO:0031090	Component	Organelle membrane	IGI	19751721
GO:0032809	Component	Neuronal cell body membrane	IC	26224839
GO:0036376	Process	Sodium ion export across plasma membrane	IBA
GO:0036376	Process	Sodium ion export across plasma membrane	IDA	10636900
GO:0043025	Component	Neuronal cell body	IDA	26224839
GO:0045202	Component	Synapse	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	10636900
GO:0060075	Process	Regulation of resting membrane potential	TAS	26224839
GO:0060342	Component	Photoreceptor inner segment membrane	ISS	26373354
GO:0071383	Process	Cellular response to steroid hormone stimulus	NAS	11546672
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	19683723
GO:0098984	Component	Neuron to neuron synapse	ISS
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1903416	Process	Response to glycoside	NAS	11546672
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:1990239	Function	Steroid hormone binding	NAS	11546672
GO:1990535	Process	Neuron projection maintenance	IGI	26224839
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	10636900

Other IDs

• MIM: 182350
• HGNC: 801
• e!Ensembl: ENSG00000105409

Protein

• UniProt ID: P13637
• Protein name: Sodium/potassium-transporting ATPase subunit alpha-3 (Na(+)/K(+) ATPase alpha-3 subunit) (EC 7.2.2.13) (Na(+)/K(+) ATPase alpha(III) subunit) (Sodium pump subunit alpha-3)
• 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: 8D3U, 8D3V, 8D3W, 8D3X, 8D3Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00690	Cation_ATPase_N	33 → 101	Cation transporter/ATPase, N-terminus	Domain
  PF00122	E1-E2_ATPase	153 → 344		Family
  PF13246	Cation_ATPase	416 → 511		Family
  PF00689	Cation_ATPase_C	789 → 998	Cation transporting ATPase, C-terminus	Family

• Sequence:

  MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE
  ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL
  YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL
  VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV
  EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS
  LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST
  STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR
  AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL
  SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE
  RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG
  IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL
  KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI
  GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF
  LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI
  SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ
  RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY
  CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY

• Sequence length: 1013

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
Abnormal earlobe morphology	Pathogenic	rs542652468	RCV000414799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Likely pathogenic; Pathogenic	rs606231430, rs1599706522	RCV002284134 RCV000825579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood 2	Likely pathogenic; Pathogenic	rs2075071667, rs1555863693, rs1555863623, rs2075090666, rs2145972483, rs398122887, rs587777771, rs1064797245, rs606231444, rs267606670, rs606231441, rs606231437, rs606231435, rs80356532, rs542652468, rs2514032270, rs797044897, rs80356537, rs2514066639, rs1555865401, rs886041431, rs80356534, rs782175860, rs1131691940, rs387907281, rs387907282, rs2075190697, rs1599715325, rs2514075131, rs529241207, rs2075237136	RCV001330417 RCV004796628 RCV001844305 RCV001844314 RCV001667867 RCV000128466 RCV000195001 RCV002283869 RCV004795845 RCV000148329 RCV000148326 RCV000148319 RCV000578251 RCV000148305 RCV000148303 RCV002466333 RCV004796087 RCV000193987 RCV003223518 RCV003114440 RCV001775110 RCV001004717 RCV000128465 RCV000853257 RCV000501825 RCV000504338 RCV000030749 RCV000030750 RCV000030751 RCV000030752 RCV000850517 RCV001004770 RCV001004679 RCV001004744 RCV001257081 RCV001260491	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Apnea	Likely pathogenic; Pathogenic	rs879255368	RCV000626998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATP1A3-associated neurological disorder	Likely pathogenic; Pathogenic	rs606231435, rs2514079611, rs267606670, rs1057516032, rs1064797245, rs1599706522, rs2075237416	RCV002272140 RCV003123549 RCV003389231 RCV004786673 RCV004787793 RCV003985095 RCV001249730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATP1A3-related disorder	Likely pathogenic; Pathogenic	rs606231435, rs879975642, rs869320661, rs1555865401, rs886041396, rs267606670, rs1064797245, rs80356537, rs398122887	RCV005867931 RCV002308727 RCV003335231 RCV004725134 RCV005869200 RCV005867748 RCV004737556 RCV001265551 RCV004549395	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Pathogenic; Likely pathogenic	rs1555863693, rs2145946065, rs587777771, rs606231435, rs606231444, rs1057522886, rs797044897, rs863224847, rs864309572, rs267606670, rs782175860, rs1064797245, rs1135401822, rs1135401821, rs80356537, rs387907281, rs398122887, rs1599705281, rs557939077	RCV004796628 RCV001809048 RCV000144250 RCV005865104 RCV004795845 RCV000791274 RCV002465433 RCV004796087 RCV000199314 RCV001808560 RCV000763432 RCV002510573 RCV000850500 RCV000496169 RCV000496204 RCV000515424 RCV000763433 RCV000763431 RCV000850517 RCV000995498 RCV001254116	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Delayed speech and language development	Likely pathogenic; Pathogenic	rs879255368	RCV000626998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Depressed nasal bridge	Pathogenic	rs542652468	RCV000414799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 99	Likely pathogenic; Pathogenic	rs2075159021, rs1555863693, rs2145977887, rs2145977758, rs2145972497, rs2075284959, rs606231439, rs2145945797, rs2145946065, rs2514032458, rs2514054212, rs606231444, rs606231443, rs797044897, rs886041396, rs782175860, rs80356537, rs387907281	RCV002510592 RCV004796628 RCV001777181 RCV001777182 RCV001777183 RCV001808878 RCV001808892 RCV002086731 RCV002281623 RCV002281624 RCV002289041 RCV004795845 RCV004576923 RCV004796087 RCV003236579 RCV004017606 RCV002281545 RCV001807744	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskinesia	Pathogenic	rs387907281	RCV002243675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia 12	Likely pathogenic; Pathogenic	rs2075159021, rs2075276177, rs2145944794, rs1555863693, rs606231432, rs1568853466, rs2145972483, rs2145945887, rs2145971509, rs2145945849, rs2145972442, rs398122887, rs2145959709, rs2145965854, rs2145945805, rs2145942372, rs587777771, rs267606670, rs2145959393, rs606231435, rs397515382, rs606231444, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231434, rs557052809, rs80356532, rs542652468, rs2514047021, rs782175860, rs797044897, rs2514084596, rs2514065578, rs2514054481, rs2514050218, rs2075071667, rs864309572, rs2514023544, rs573535377, rs2514023621, rs397515577, rs869320661, rs2514028081, rs2514066639, rs1555865401, rs886041396, rs80356534, rs80356533, rs80356535, rs80356536, rs80356537, rs2514046994, rs2514066934, rs1131691307, rs2075158686, rs2514025233, rs2514054212, rs1060500993, rs1064795234, rs1064797245, rs387907281, rs387907282, rs1555859571, rs1555859157, rs879255368, rs1599706613, rs1599715341, rs1599719130, rs1599712456, rs1599712523, rs1599719534, rs1599706511, rs1599725621, rs2075090666, rs529241207, rs2075071528, rs2075058462	RCV001342673 RCV001352343 RCV001726499 RCV001389186 RCV001381008 RCV002568966 RCV001882766 RCV001838832 RCV001863934 RCV001945371 RCV001977812 RCV001849915 RCV002044429 RCV001986864 RCV001959793 RCV002010428 RCV000234480 RCV002249284 RCV002249285 RCV002274491 RCV000148335 RCV004795845 RCV000689821 RCV000818134 RCV002273963 RCV001850014 RCV000644929 RCV001058556 RCV002514853 RCV000148315 RCV001381006 RCV000816262 RCV003041374 RCV001381007 RCV005089717 RCV001234241 RCV001206535 RCV003074994 RCV002601844 RCV004796087 RCV002795956 RCV002880636 RCV002871611 RCV002899175 RCV002909619 RCV003765310 RCV003024079 RCV003019546 RCV003043570 RCV003039836 RCV000210848 RCV003148187 RCV003333250 RCV002274003 RCV001197881 RCV000013772 RCV000013773 RCV000013774 RCV000013775 RCV000013776 RCV000013777 RCV000013778 RCV003515580 RCV003516089 RCV003627878 RCV003628175 RCV003628187 RCV003626139 RCV001387923 RCV000467092 RCV001210745 RCV000692668 RCV001060259 RCV000515424 RCV000469482 RCV000541711 RCV000476589 RCV000525007 RCV001047167 RCV002529802 RCV000705732 RCV000797584 RCV000813878 RCV000793132 RCV000850517 RCV000990221 RCV000990222 RCV000990223 RCV000995499 RCV000995500 RCV001056665 RCV001049962 RCV001257081 RCV001235897 RCV001300685	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonic disorder	Pathogenic	rs80356537, rs387907281	RCV001004008 RCV002243675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epicanthus	Pathogenic	rs542652468	RCV000414799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic	rs398122887	RCV000415180	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1599719527	RCV001004009	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs387907281	RCV000626997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemiplegia	Pathogenic; Likely pathogenic	rs387907281, rs398122887, rs879255368	RCV000626997 RCV000415180 RCV000626998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia	Likely pathogenic; Pathogenic	rs1599725621	RCV005626290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1135401821	RCV005621958	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile onset psychosis	Likely pathogenic; Pathogenic	rs1555865401	RCV000225081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs387907281	RCV002243675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculogyric crisis	Pathogenic; Likely pathogenic	rs80356537, rs387907281, rs879255368	RCV001004008 RCV000626997 RCV000626998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic; Likely pathogenic	rs542652468, rs782175860, rs267606670, rs1064797245, rs387907281, rs879255368	RCV000414799 RCV005624503 RCV004577942 RCV004586737 RCV002243675 RCV000626998	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures, benign familial neonatal, 1	Pathogenic	rs2145972429	RCV001667869	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetraparesis	Pathogenic	rs80356537	RCV001004008	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Undetermined early-onset epileptic encephalopathy	Likely pathogenic	rs2145983235	RCV002086741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly	Pathogenic	rs542652468	RCV000414799	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHEDONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPOS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINETIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	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
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal central nervous system disorders	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	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
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	31080086		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	26410222, 35177115, 37482377	Associate	★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	BEFREE	22842232, 22850527, 23409136, 23527305, 23681173, 24100174, 24291144, 24468074, 24491413, 24631656, 24713507, 24739246, 24803225, 24842602, 25359261, 25439493, 25447930, 25643588, 25656163, 25662428, 25681536, 25895915, 25996915, 26400718, 26410222, 26463346, 27146299, 27549929, 27634470, 27726050, 28637637, 28969699, 29269014, 29395663, 29397530, 29567111, 29861155, 29895895, 30392841, 30891744		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Alternating Hemiplegia	CTD_human_DG	22842232, 24631656		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Alternating Hemiplegia	GENOMICS_ENGLAND_DG	22842232, 22850527		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alternating hemiplegia of childhood	Alternating Hemiplegia	ORPHANET_DG	22842232		★★★★☆ 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	24468074, 24803225, 24842602, 25656163, 25996915, 26297560, 26400718, 26410222, 27146299, 27634470, 29269014, 29895895, 30891744, 31425744, 32348881, 32627437, 32883312, 34459253, 35177115, 35390560, 37614148, 38097767, 39331927	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1	Alternating Hemiplegia	GENOMICS_ENGLAND_DG	22842232		★☆☆☆☆ Found in Text Mining only
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2	Alternating Hemiplegia	CLINVAR_DG	15260953, 22842232, 22850527, 23409136, 24631656, 26400718, 26633545, 26938784, 27268479, 27634470, 27726050		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2	Alternating Hemiplegia	GENOMICS_ENGLAND_DG	22842232, 22850527, 25447930		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2	Alternating Hemiplegia	UNIPROT_DG	22842232, 22850527, 23409136, 24631656, 26993267		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2	Alternating Hemiplegia	BEFREE	26410222		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anhedonia	Anhedonia	PSYGENET_DG	21418141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	26410222	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	34459253	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	26990090, 29915382, 39712145	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia Like Disorder	Ataxia telangiectasia	Pubtator	29915382	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	32913013	Associate	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	29184165, 29305691, 29435658		★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory neuropathy	Pubtator	29184165, 38456936	Associate	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	29184165, 29305691, 29435658		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	34549350, 37482377	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	15260953		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	15260953		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	15260953		★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral vestibulopathy	Pubtator	26400718, 27634470, 29184165, 32913013	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11353452, 9646882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11353452, 9646882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bradycardia	Bradycardia	Pubtator	34459253	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26400718, 31425744	Associate	★☆☆☆☆ Found in Text Mining only
CAPOS syndrome	CAPOS Syndrome	GENOMICS_ENGLAND_DG	22842232, 22850527, 25447930		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPOS syndrome	CAPOS Syndrome	BEFREE	24468074, 25359261, 25447930, 26453127, 27091223, 27634470, 29184165, 29287866, 29291920, 29305691, 29396171, 29397530, 29625811, 30904181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPOS syndrome	CAPOS Syndrome	UNIPROT_DG	24468074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPOS syndrome	CAPOS Syndrome	ORPHANET_DG	24468074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPOS syndrome	Capos syndrome	Pubtator	24468074, 26400718	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPOS syndrome	CAPOS Syndrome	CLINVAR_DG	26400718, 27268479, 27634470, 27726050		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPOS syndrome	CAPOS Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39712145	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	26400718, 27634470, 29184165, 32895939, 32913013, 35110381	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	27091223		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	32895939, 35326432	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	37043503	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	36054588	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	27634470		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	27634470	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	22924536		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27549929		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37482377, 39712145	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	22842232, 22850527, 23409136, 23681173, 24100174, 24431296, 24491413, 24523486, 24631656, 24713507, 24803225, 24824604, 24842602, 25359261, 25447930, 25662428, 25681536, 25996915, 26400718, 26463346, 27549929, 27634470, 27726050, 28249736, 29291920, 29395663, 29397530, 29567111, 30071271, 30392841, 30562231, 30891744, 31484714		★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome with episodic apnea	Congenital myasthenic syndrome	Pubtator	25656163	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	BEFREE	27726050		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	18418421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	22534615	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	25656163	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	21418141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	25656163, 37043503	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30392841		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11020638, 15260953, 16632466, 19652145, 22534615, 22842232, 22850527, 22924536, 22933743, 23483595, 24123283, 24436111, 24468074, 24739246, 24996492, 25359261, 25656163, 25895915, 25996915, 26297560, 26400718, 26410222, 27091223, 28293679, 2842249, 29184165, 8496742		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	15260948, 22534615, 31871823, 33144327, 35110381, 37482377, 39712145	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia 12	Dystonia	Pubtator	15260948, 15260953, 22534615, 22933743, 24436111, 24803225, 26400718, 26990090, 27634470, 27835968, 31361359, 31425744, 33222902, 34413044	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 12	Dystonia	BEFREE	15260953, 15390042, 15897512, 16161139, 17282997, 17595045, 18675996, 19351654, 20590807, 21297628, 22842232, 22850527, 22924536, 22933743, 23622412, 24436111, 24468074, 24523486, 24713507, 24739246, 24803225, 25359261, 25439493, 25447930, 25656163, 25895915, 26400718, 26990090, 27549929, 27634470, 27726050, 27835968, 29291920, 29397530, 30392841, 31361359		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 12	Dystonia	UNIPROT_DG	15260953, 19351654, 19652145		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 12	Dystonia	CLINVAR_DG	15260953, 17282997, 17516473, 17595045, 19652145, 20558373, 20576601, 22534615, 22842232, 22850527, 23409136, 23483595, 24100174, 24431296, 24468074, 24523486, 24631656, 24842602, 25056583, 25447930, 25523819, 25681536, 25996915, 26400718, 26410222, 27268479, 27634470, 27726050, 28441826, 29066118, 29397530		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 12	Dystonia	CTD_human_DG	15260953, 24631656		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 12	Dystonia	GENOMICS_ENGLAND_DG	22842232, 22850527		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSTONIA 12	Dystonia	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonia Disorders	Dystonia	BEFREE	10443882, 15260953, 17282997, 17516473, 22067897, 22422472, 22924536, 23622412, 23775978, 24136457, 25359261, 25447930, 27549929, 27835968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, Primary	Dystonia	BEFREE	23775978		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	24468074	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26400718, 29066118, 29396171, 29861155, 30862413		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24842602, 25656163, 26410222, 30977854, 33144327, 39712145	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	BEFREE	25656163, 29861155, 30392841		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, Generalized	Epilepsy	BEFREE	26003227		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29395663		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic Ataxia	Episodic Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Episodic quadriplegia	Episodic quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	15260953		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	31871823, 39712145	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22575386, 36627101	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31746080		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31746080		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29588587		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36627101	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing Disorders	Headache	Pubtator	29184165	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29184165	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	26400718, 27634470, 29184165, 32913013	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	18418421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	18418421		★☆☆☆☆ Found in Text Mining only
Hemiplegia, Crossed	Hemiplegia	BEFREE	24291144, 28637637		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	32348881, 36054588	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27549929		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26410222, 35110381, 37043503	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	18418421		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	25656163	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	11353452		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	11353452		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	11353452		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	11353452		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	11353452		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	11353452		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	11353452		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	32348881, 34161264	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	21418141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation Autosomal Dominant 1	Intellectual developmental disorder	Pubtator	37482377	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25656163		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31425744	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	26453127		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
MIGRAINE, FAMILIAL HEMIPLEGIC, 2	Hemiplegic migraine	BEFREE	22067897		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26400718	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	31361359	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	23527305		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11020638, 15260953, 16632466, 19652145, 22534615, 22842232, 22850527, 22924536, 22933743, 23483595, 24123283, 24436111, 24468074, 24739246, 24996492, 25359261, 25656163, 25895915, 25996915, 26297560, 26400718, 26410222, 27091223, 28293679, 2842249, 29184165, 8496742		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	15260953, 22850527, 23622412, 24803225, 27262149, 29861155		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	26410222, 31871823	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11020638, 15260953, 16632466, 19652145, 22534615, 22842232, 22850527, 22924536, 22933743, 23483595, 24123283, 24436111, 24468074, 24739246, 24996492, 25359261, 25656163, 25895915, 25996915, 26297560, 26400718, 26410222, 27091223, 28293679, 2842249, 29184165, 8496742		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	18418421		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	23622412		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	2907504		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23839495		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24739246, 25447930, 27726050, 28465228, 29396171, 29861155, 30392841, 31425744		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24631656, 27312461		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	30539418	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	26400718, 27634470, 29184165, 32913013	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29287866		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic atrophy polyneuropathy deafness	Optic atrophy	Pubtator	27634470	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	27634470	Associate	★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	39712145	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10443882, 23555734		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	Parkinson disease	BEFREE	29861155		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	15260953		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	15260953	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	15260953, 17282997, 20590807, 21072501, 22067897, 22422472, 23893446, 27835968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	LHGDN	15260953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	15260953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	15260953		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	30973596		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	34161264	Associate	★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	30973596		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	22933743, 31361359, 39950246	Associate	★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	15260953		★☆☆☆☆ Found in Text Mining only
Rapid-onset dystonia-parkinsonism	Dystonia-Parkinsonism	Orphanet			★☆☆☆☆ Found in Text Mining only
Retinoschisis, Juvenile, X-Linked	Retinoschisis, X-Linked	BEFREE	21196491		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia Childhood	Schizophrenia	Pubtator	29895895	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	BEFREE	29895895		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26410222, 29269014, 31618474, 32913013, 35110381, 37482377	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	25895915, 27091223, 29090527, 29305691		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	8455188		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	37043503	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	25996915	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	34459253	Associate	★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	22842232, 22850527, 23409136, 23681173, 24100174, 24431296, 24491413, 24523486, 24631656, 24713507, 24803225, 24824604, 24842602, 25359261, 25447930, 25662428, 25681536, 25996915, 26400718, 26463346, 27549929, 27634470, 27726050, 28249736, 29291920, 29395663, 29397530, 29567111, 30071271, 30392841, 30562231, 30891744, 31484714		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	26400718		★☆☆☆☆ Found in Text Mining only