KCNA1 (potassium voltage-gated channel subfamily A member 1)

Gene

• Entrez ID: 3736
• Gene name: Potassium voltage-gated channel subfamily A member 1
• Gene symbol: KCNA1
• Synonyms (NCBI Gene): AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
• Chromosome: 12
• Chromosome location: 12p13.32
• Summary: This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229000	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs28933381	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs28933382	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs28933383	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs104894348	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894349	G>T	Pathogenic	Coding sequence variant, missense variant
rs104894352	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894353	G>C	Pathogenic	Coding sequence variant, missense variant
rs104894354	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894355	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894356	T>A	Pathogenic	Coding sequence variant, missense variant
rs104894357	T>G	Pathogenic	Coding sequence variant, missense variant
rs104894358	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121918067	A>G	Pathogenic	Coding sequence variant, missense variant
rs267607195	T>A	Pathogenic	Missense variant, coding sequence variant
rs797044929	C>T	Pathogenic	Missense variant, coding sequence variant
rs1085308020	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1135401950	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555085761	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555085798	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT734394	hsa-miR-125b-5p	Luciferase reporter assay, Western blotting	32435510
MIRT1080130	hsa-miR-1206	CLIP-seq
MIRT1080131	hsa-miR-1279	CLIP-seq
MIRT1080132	hsa-miR-128	CLIP-seq
MIRT1080133	hsa-miR-1303	CLIP-seq
MIRT1080134	hsa-miR-134	CLIP-seq
MIRT1080135	hsa-miR-181a	CLIP-seq
MIRT1080136	hsa-miR-181b	CLIP-seq
MIRT1080137	hsa-miR-181c	CLIP-seq
MIRT1080138	hsa-miR-181d	CLIP-seq
MIRT1080139	hsa-miR-18a	CLIP-seq
MIRT1080140	hsa-miR-18b	CLIP-seq
MIRT1080141	hsa-miR-193a-3p	CLIP-seq
MIRT1080142	hsa-miR-193b	CLIP-seq
MIRT1080143	hsa-miR-198	CLIP-seq
MIRT1080144	hsa-miR-200b	CLIP-seq
MIRT1080145	hsa-miR-200c	CLIP-seq
MIRT1080146	hsa-miR-2053	CLIP-seq
MIRT1080147	hsa-miR-2110	CLIP-seq
MIRT1080148	hsa-miR-2276	CLIP-seq
MIRT1080149	hsa-miR-27a	CLIP-seq
MIRT1080150	hsa-miR-27b	CLIP-seq
MIRT1080151	hsa-miR-302a	CLIP-seq
MIRT1080152	hsa-miR-302b	CLIP-seq
MIRT1080153	hsa-miR-302c	CLIP-seq
MIRT1080154	hsa-miR-302d	CLIP-seq
MIRT1080155	hsa-miR-302e	CLIP-seq
MIRT1080156	hsa-miR-3065-3p	CLIP-seq
MIRT1080157	hsa-miR-3118	CLIP-seq
MIRT1080158	hsa-miR-3123	CLIP-seq
MIRT1080159	hsa-miR-3125	CLIP-seq
MIRT1080160	hsa-miR-3127-5p	CLIP-seq
MIRT1080161	hsa-miR-3143	CLIP-seq
MIRT1080162	hsa-miR-3150a-3p	CLIP-seq
MIRT1080163	hsa-miR-3173-3p	CLIP-seq
MIRT1080164	hsa-miR-3611	CLIP-seq
MIRT1080165	hsa-miR-3616-5p	CLIP-seq
MIRT1080166	hsa-miR-3647-5p	CLIP-seq
MIRT1080167	hsa-miR-3652	CLIP-seq
MIRT1080168	hsa-miR-3663-5p	CLIP-seq
MIRT1080169	hsa-miR-372	CLIP-seq
MIRT1080170	hsa-miR-373	CLIP-seq
MIRT1080171	hsa-miR-374c	CLIP-seq
MIRT1080172	hsa-miR-3916	CLIP-seq
MIRT1080173	hsa-miR-3925-5p	CLIP-seq
MIRT1080174	hsa-miR-3975	CLIP-seq
MIRT1080175	hsa-miR-4260	CLIP-seq
MIRT1080176	hsa-miR-4262	CLIP-seq
MIRT1080177	hsa-miR-4263	CLIP-seq
MIRT1080178	hsa-miR-4270	CLIP-seq
MIRT1080179	hsa-miR-4271	CLIP-seq
MIRT1080180	hsa-miR-4275	CLIP-seq
MIRT1080181	hsa-miR-4289	CLIP-seq
MIRT1080182	hsa-miR-429	CLIP-seq
MIRT1080183	hsa-miR-4325	CLIP-seq
MIRT1080184	hsa-miR-4328	CLIP-seq
MIRT1080185	hsa-miR-4428	CLIP-seq
MIRT1080186	hsa-miR-4430	CLIP-seq
MIRT1080187	hsa-miR-4441	CLIP-seq
MIRT1080188	hsa-miR-4464	CLIP-seq
MIRT1080189	hsa-miR-4505	CLIP-seq
MIRT1080190	hsa-miR-4695-5p	CLIP-seq
MIRT1080191	hsa-miR-4699-5p	CLIP-seq
MIRT1080192	hsa-miR-4708-3p	CLIP-seq
MIRT1080193	hsa-miR-4725-3p	CLIP-seq
MIRT1080194	hsa-miR-4735-3p	CLIP-seq
MIRT1080195	hsa-miR-4748	CLIP-seq
MIRT1080196	hsa-miR-4755-3p	CLIP-seq
MIRT1080197	hsa-miR-4760-3p	CLIP-seq
MIRT1080198	hsa-miR-4772-3p	CLIP-seq
MIRT1080199	hsa-miR-4795-5p	CLIP-seq
MIRT1080200	hsa-miR-513a-5p	CLIP-seq
MIRT1080201	hsa-miR-513c	CLIP-seq
MIRT1080202	hsa-miR-514b-5p	CLIP-seq
MIRT1080203	hsa-miR-519a	CLIP-seq
MIRT1080204	hsa-miR-519b-3p	CLIP-seq
MIRT1080205	hsa-miR-519c-3p	CLIP-seq
MIRT1080206	hsa-miR-520a-3p	CLIP-seq
MIRT1080207	hsa-miR-520b	CLIP-seq
MIRT1080208	hsa-miR-520c-3p	CLIP-seq
MIRT1080209	hsa-miR-520d-3p	CLIP-seq
MIRT1080210	hsa-miR-520e	CLIP-seq
MIRT1080211	hsa-miR-543	CLIP-seq
MIRT1080212	hsa-miR-544	CLIP-seq
MIRT1080213	hsa-miR-548c-3p	CLIP-seq
MIRT1080214	hsa-miR-573	CLIP-seq
MIRT1080215	hsa-miR-576-5p	CLIP-seq
MIRT1080216	hsa-miR-647	CLIP-seq
MIRT1080217	hsa-miR-649	CLIP-seq
MIRT1080218	hsa-miR-655	CLIP-seq
MIRT1080219	hsa-miR-664	CLIP-seq
MIRT1080178	hsa-miR-4270	CLIP-seq
MIRT1080180	hsa-miR-4275	CLIP-seq
MIRT2019931	hsa-miR-4282	CLIP-seq
MIRT1080187	hsa-miR-4441	CLIP-seq
MIRT2019932	hsa-miR-4531	CLIP-seq
MIRT2019933	hsa-miR-4685-5p	CLIP-seq
MIRT1080192	hsa-miR-4708-3p	CLIP-seq
MIRT1080197	hsa-miR-4760-3p	CLIP-seq
MIRT2019934	hsa-miR-511	CLIP-seq
MIRT2019935	hsa-miR-544b	CLIP-seq
MIRT2019936	hsa-miR-590-3p	CLIP-seq
MIRT2251793	hsa-miR-1208	CLIP-seq
MIRT2251794	hsa-miR-1256	CLIP-seq
MIRT2251795	hsa-miR-125a-5p	CLIP-seq
MIRT2251796	hsa-miR-125b	CLIP-seq
MIRT2251797	hsa-miR-1267	CLIP-seq
MIRT2251798	hsa-miR-137	CLIP-seq
MIRT2251799	hsa-miR-197	CLIP-seq
MIRT2251800	hsa-miR-3192	CLIP-seq
MIRT2251801	hsa-miR-3681	CLIP-seq
MIRT2251802	hsa-miR-3689a-3p	CLIP-seq
MIRT2251803	hsa-miR-3689c	CLIP-seq
MIRT2251804	hsa-miR-4318	CLIP-seq
MIRT2251805	hsa-miR-4319	CLIP-seq
MIRT2251806	hsa-miR-4420	CLIP-seq
MIRT2251807	hsa-miR-4424	CLIP-seq
MIRT1080185	hsa-miR-4428	CLIP-seq
MIRT2251808	hsa-miR-4481	CLIP-seq
MIRT2251809	hsa-miR-4642	CLIP-seq
MIRT2251810	hsa-miR-4728-5p	CLIP-seq
MIRT2251811	hsa-miR-4745-5p	CLIP-seq
MIRT2251812	hsa-miR-4758-5p	CLIP-seq
MIRT2251813	hsa-miR-4797-5p	CLIP-seq
MIRT2251814	hsa-miR-548an	CLIP-seq
MIRT2251815	hsa-miR-661	CLIP-seq
MIRT2251816	hsa-miR-765	CLIP-seq
MIRT2251817	hsa-miR-873	CLIP-seq
MIRT2389600	hsa-miR-193a-5p	CLIP-seq
MIRT2389601	hsa-miR-23a	CLIP-seq
MIRT2389602	hsa-miR-23b	CLIP-seq
MIRT2389603	hsa-miR-23c	CLIP-seq
MIRT2389604	hsa-miR-4264	CLIP-seq
MIRT2389605	hsa-miR-4277	CLIP-seq
MIRT2389606	hsa-miR-4426	CLIP-seq
MIRT2389607	hsa-miR-4647	CLIP-seq
MIRT2389608	hsa-miR-4662b	CLIP-seq
MIRT2389609	hsa-miR-4717-3p	CLIP-seq
MIRT2389610	hsa-miR-4797-3p	CLIP-seq
MIRT2452156	hsa-miR-1253	CLIP-seq
MIRT1080139	hsa-miR-18a	CLIP-seq
MIRT1080140	hsa-miR-18b	CLIP-seq
MIRT2452157	hsa-miR-4709-3p	CLIP-seq
MIRT1080194	hsa-miR-4735-3p	CLIP-seq
MIRT2555082	hsa-miR-1911	CLIP-seq
MIRT2555083	hsa-miR-541	CLIP-seq
MIRT2555084	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0001964	Process	Startle response	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	19912772
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	10585425
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	19912772
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IMP	8845167
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11937501, 19968958, 23903368, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA	17136396
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	19912772
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006937	Process	Regulation of muscle contraction	ISS
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007420	Process	Brain development	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11086297
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IMP	10585425
GO:0009986	Component	Cell surface	IEA
GO:0010644	Process	Cell communication by electrical coupling	ISS
GO:0010960	Process	Magnesium ion homeostasis	IMP	19307729
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019228	Process	Neuronal action potential	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0023041	Process	Neuronal signal transduction	ISS
GO:0030054	Component	Cell junction	IEA
GO:0030054	Component	Cell junction	ISS
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033270	Component	Paranode region of axon	IBA
GO:0033270	Component	Paranode region of axon	IDA	11086297
GO:0033270	Component	Paranode region of axon	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	19307729
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043194	Component	Axon initial segment	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043679	Component	Axon terminus	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0044224	Component	Juxtaparanode region of axon	IBA
GO:0044224	Component	Juxtaparanode region of axon	IDA	11086297
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0050905	Process	Neuromuscular process	IEA
GO:0050905	Process	Neuromuscular process	IMP	17136396
GO:0050905	Process	Neuromuscular process	ISS
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	ISS
GO:0050976	Process	Detection of mechanical stimulus involved in sensory perception of touch	IEA
GO:0050976	Process	Detection of mechanical stimulus involved in sensory perception of touch	ISS
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071286	Process	Cellular response to magnesium ion	IEA
GO:0071286	Process	Cellular response to magnesium ion	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	19912772
GO:0086011	Process	Membrane repolarization during action potential	IEA
GO:0086011	Process	Membrane repolarization during action potential	IMP	8845167
GO:0097718	Function	Disordered domain specific binding	IPI	10585425
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 176260
• HGNC: 6218
• e!Ensembl: ENSG00000111262

Protein

• UniProt ID: Q09470
• Protein name: Potassium voltage-gated channel subfamily A member 1 (Voltage-gated K(+) channel HuKI) (Voltage-gated potassium channel HBK1) (Voltage-gated potassium channel subunit Kv1.1)
• Protein function: Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818, PubMed:8845167). Contributes to the regulatio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	39 → 130	BTB/POZ domain	Domain
  PF00520	Ion_trans	166 → 419	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected adjacent to nodes of Ranvier in juxtaparanodal zones in spinal cord nerve fibers, but also in paranodal regions in some myelinated spinal cord axons (at protein level) (PubMed:11086297). Detected in the islet of Langerhans (Pu
• Sequence:

  MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPN
  TLLGNPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFY
  ELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYPESSGPARVIAIVSVMVILIS
  IVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
  FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVF
  RIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIP
  DAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETE
  GEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
  ANQNCVNKSKLLTDV

• Sequence length: 495

Pathways

Reactome:

Voltage gated Potassium channels

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
Epileptic encephalopathy	Likely pathogenic	rs1555085798	RCV003484994	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic ataxia type 1	Likely pathogenic; Pathogenic	rs2137673958, rs1555085786, rs2137673640, rs2137673633, rs2137673584, rs2497353523, rs2497353747, rs2497353297, rs2497353491, rs104894352, rs104894348, rs104894349, rs104894356, rs104894357, rs104894353, rs104894354, rs104894355, rs267607195, rs104894358, rs28933383, rs2497353507, rs1591627924, rs113994120, rs1085308020, rs1555085761, rs1555085798, rs1947358808	RCV001859333 RCV001918958 RCV001994622 RCV002267675 RCV002271791 RCV002472214 RCV002791441 RCV003388187 RCV003322699 RCV003325267 RCV000014424 RCV000014425 RCV000014426 RCV000014427 RCV000014428 RCV000014429 RCV000014430 RCV000014431 RCV000014432 RCV000014435 RCV000014436 RCV003515231 RCV003627413 RCV000020219 RCV005099598 RCV001782976 RCV001775128 RCV001857907 RCV002290674	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic kinesigenic dyskinesia	Likely pathogenic; Pathogenic	rs2137673958	RCV001449664	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely pathogenic	rs2137673957	RCV001449665	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myokymia 1	Pathogenic	rs28933381, rs28933382, rs28933383	RCV000014433 RCV000014434 RCV000014437	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myokymia 1 with hypomagnesemia	Pathogenic	rs121918067	RCV000014438	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA, TYPE 1	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC KINESIGENIC DYSKINESIA 1	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary episodic ataxia	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNA1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myokymia	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL KINESIGENIC DYSKINESIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28767591	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	23909822, 26395884, 28676720, 35897654, 37280215	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	7762567		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign neonatal epilepsy	Benign Epilepsy	BEFREE	17140792		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36793218	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	22018336	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23774215		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22018336	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17013799	Associate	★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	BEFREE	26395884		★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	Pubtator	26395884	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	7762567	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	19205071		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	23349320, 24578548	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31354026		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31354026		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	22018336	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33078631	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Continuous Muscle Fiber Activity, Hereditary	Continuous Muscle Fiber Activity	ORPHANET_DG	17136396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Deafness	Pubtator	23349320	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32705822, 35897654	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	31586945		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	BEFREE	17912752		★☆☆☆☆ Found in Text Mining only
Dyspnea, Paroxysmal	Dyspnea, Paroxysmal	LHGDN	17912752		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	30055040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies Partial	Partial epilepsy	Pubtator	34778950	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11579435, 19490051, 20660867, 22612818, 29443088, 30055040, 30242974, 30974168		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	20660867, 24372310, 32607479, 34778950, 35897654, 36793218	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30055040, 31586945		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34778950, 35897654	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	15351427, 15532032, 17912752, 19645908, 23909822, 24639406, 26395884, 27271339, 27477325, 28666963, 7561920, 7842011, 8808284, 9600245, 9735950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	GENOMICS_ENGLAND_DG	17575281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic ataxia	Pubtator	19903818, 21106501, 24578548	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic ataxia type 1	Episodic ataxia	UNIPROT_DG	10355668, 11013453, 11026449, 12077175, 15532032, 17136396, 17156368, 19307729, 19903818, 7842011, 8541859, 8845167, 8871592, 9600245		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic ataxia type 1	Episodic ataxia	BEFREE	10428758, 11310626, 11346027, 11579435, 11960817, 15532032, 17912752, 18926884, 19779067, 20660867, 21307345, 22206926, 23349320, 23909822, 24275721, 26825872, 27271339, 27477325, 28676720, 30055040, 9183251, 9390841		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic ataxia type 1	Episodic ataxia	GENOMICS_ENGLAND_DG	17575281, 19307729, 24578548, 27730449		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic Ataxia Type 1	Episodic ataxia	Pubtator	19348045, 20660867, 21106501, 23349320, 23909822, 24578548, 26395884, 28676720, 29791908, 31586945, 32705822, 35897654, 36793218, 37280215, 7762567, 9183251	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic ataxia type 1	Episodic ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic ataxia type 1	Episodic ataxia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic ataxia type 1	Episodic ataxia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic Ataxia Type 2	Episodic ataxia	Pubtator	7561920	Associate	★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	BEFREE	11960817, 18180645		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29294000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Sensory Seizure	Focal Sensory Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	11579435		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	23349320	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary continuous muscle fiber activity	Hereditary Continuous Muscle Fiber Activity	Orphanet			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11310626		★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	32607479	Associate	★☆☆☆☆ 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	30055040		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isaacs syndrome	Isaacs Syndrome	BEFREE	15351427, 17140792		★☆☆☆☆ Found in Text Mining only
Isolated autosomal dominant hypomagnesemia, Glaudemans type	Hypomagnesemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22018336	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	28252570	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23774215		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31354026		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20823417		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	20823417	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myokymia 1	Myokymia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39961214	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	ORPHANET_DG	29294000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal kinesigenic dyskinesia	Paroxysmal Kinesigenic Dyskinesia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34349187	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20660867, 32705822	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	32607479	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetany	Tetany	Pubtator	29791908	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17013799	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★☆☆☆☆ Found in Text Mining only