KCNA2 (potassium voltage-gated channel subfamily A member 2)

Gene

• Entrez ID: 3737
• Gene name: Potassium voltage-gated channel subfamily A member 2
• Gene symbol: KCNA2
• Synonyms (NCBI Gene): DEE32, EIEE32, HBK5, HK4, HUKIV, KV1.2, MK2, NGK1, RBK2
• Chromosome: 1
• Chromosome location: 1p13.3
• Summary: Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200499541	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs371979518	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs763353895	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs786205231	A>G	Pathogenic	Missense variant, coding sequence variant
rs786205232	C>T	Pathogenic	Missense variant, coding sequence variant
rs876657390	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041761	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1057523703	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1064794738	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1064796294	CT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1085307768	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691939	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1131691974	G>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553181280	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1553181282	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553181301	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553181323	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1557731896	G>C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1570752696	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1570753525	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736888	hsa-miR-137	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	32621322
MIRT1080220	hsa-miR-125a-3p	CLIP-seq
MIRT1080221	hsa-miR-3138	CLIP-seq
MIRT1080222	hsa-miR-383	CLIP-seq
MIRT1080223	hsa-miR-3934	CLIP-seq
MIRT1080224	hsa-miR-4520a-3p	CLIP-seq
MIRT1080225	hsa-miR-4699-3p	CLIP-seq
MIRT1080226	hsa-miR-4742-5p	CLIP-seq
MIRT1080227	hsa-miR-4772-5p	CLIP-seq
MIRT1080228	hsa-miR-520d-5p	CLIP-seq
MIRT1080229	hsa-miR-524-5p	CLIP-seq
MIRT1080230	hsa-miR-548u	CLIP-seq
MIRT1080231	hsa-miR-581	CLIP-seq
MIRT1080232	hsa-miR-592	CLIP-seq
MIRT1080233	hsa-miR-597	CLIP-seq
MIRT1080234	hsa-miR-599	CLIP-seq
MIRT1080235	hsa-miR-764	CLIP-seq
MIRT1080220	hsa-miR-125a-3p	CLIP-seq
MIRT2019937	hsa-miR-3151	CLIP-seq
MIRT1080222	hsa-miR-383	CLIP-seq
MIRT1080223	hsa-miR-3934	CLIP-seq
MIRT1080226	hsa-miR-4742-5p	CLIP-seq
MIRT1080227	hsa-miR-4772-5p	CLIP-seq
MIRT1080235	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	11211111, 20220134, 23769686
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	19912772, 32833227, 35439054, 37883018
GO:0005249	Function	Voltage-gated potassium channel activity	ISS
GO:0005249	Function	Voltage-gated potassium channel activity	TAS	2251283
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	ISS
GO:0005251	Function	Delayed rectifier potassium channel activity	TAS	1715584
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	TAS	2722779
GO:0005515	Function	Protein binding	IPI	21357749, 25416956, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	19912772, 32833227, 35439054, 37883018
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	2251283
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	TAS	2251283
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0015271	Function	Outward rectifier potassium channel activity	IEA
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:0019233	Process	Sensory perception of pain	IEA
GO:0019233	Process	Sensory perception of pain	ISS
GO:0019894	Function	Kinesin binding	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0021633	Process	Optic nerve structural organization	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031258	Component	Lamellipodium membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0033010	Component	Paranodal junction	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034705	Component	Potassium channel complex	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043679	Component	Axon terminus	IBA
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	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044305	Component	Calyx of Held	IEA
GO:0045188	Process	Regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0070161	Component	Anchoring junction	IEA
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:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0097623	Process	Potassium ion export across plasma membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA
GO:1905030	Function	Voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

Other IDs

• MIM: 176262
• HGNC: 6220
• e!Ensembl: ENSG00000177301

Protein

• UniProt ID: P16389
• Protein name: Potassium voltage-gated channel subfamily A member 2 (NGK1) (Voltage-gated K(+) channel HuKIV) (Voltage-gated potassium channel HBK5) (Voltage-gated potassium channel subunit Kv1.2)
• 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 cardiovascular system. Prevents aberrant action potential firing and r
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	35 → 126	BTB/POZ domain	Domain
  PF00520	Ion_trans	162 → 421	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain cortex (PubMed:16473933). Detected in peroneal nerve in the juxtaparanodal regions of the node of Ranvier; expression is decreased in patients with diabetes mellitus that suffer from axonal neuropathy (PubMed:22649228
• Sequence:

  MTVATGDPADEAAALPGHPQDTYDPEADHECCERVVINISGLRFETQLKTLAQFPETLLG
  DPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDIFSEEIRFYELGE
  EAMEMFREDEGYIKEEERPLPENEFQRQVWLLFEYPESSGPARIIAIVSVMVILISIVSF
  CLETLPIFRDENEDMHGSGVTFHTYSNSTIGYQQSTSFTDPFFIVETLCIIWFSFEFLVR
  FFACPSKAGFFTNIMNIIDIVAIIPYFITLGTELAEKPEDAQQGQQAMSLAILRVIRLVR
  VFRIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEADERESQFPS
  IPDAFWWAVVSMTTVGYGDMVPTTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRE
  TEGEEQAQYLQVTSCPKIPSSPDLKKSRSASTISKSDYMEIQEGVNNSNEDFREENLKTA
  NCTLANTNYVNITKMLTDV

• Sequence length: 499

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
Complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs886041761	RCV005250046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs764822052, rs786205232	RCV001527627 RCV001252020	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 32	Pathogenic; Likely pathogenic	rs2101396301, rs2101396443, rs2101398595, rs2101399429, rs2101403658, rs2524620540, rs2524618913, rs2524618796, rs2524616704, rs876657389, rs786205231, rs876657390, rs786205232, rs2524619990, rs2524623169, rs2524619322, rs886041761, rs2524617586, rs2524616375, rs2524621052, rs2524617464, rs2524617930, rs2524620000, rs1064796294, rs1064794738, rs1553181282, rs1553181323, rs1553181257, rs1553181301, rs1553181280, rs1557731896, rs1570752696, rs1649509389, rs1649470988, rs1649473972	RCV001379013 RCV001379814 RCV001376941 RCV001382055 RCV001775358 RCV002291488 RCV002300392 RCV002466340 RCV002466341 RCV000170511 RCV000170512 RCV000170513 RCV000170514 RCV003079008 RCV002839503 RCV003005994 RCV003031815 RCV003054346 RCV003129596 RCV000706154 RCV003589431 RCV003590168 RCV003590257 RCV003754313 RCV003754351 RCV003984920 RCV001233488 RCV000723323 RCV000986393 RCV000585826 RCV000653137 RCV000653131 RCV000677419 RCV001217681 RCV000824855 RCV001058042 RCV001250736 RCV001252957 RCV001382054 RCV001295048	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic	rs1342073847	RCV002463862	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1570753525	RCV001007896	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCN2A-related disorder	Pathogenic	rs1064794738	RCV001824800	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNA2-related disorder	Likely pathogenic; Pathogenic	rs886041761	RCV005869203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2101398625, rs786205232	RCV001780064 RCV001374910	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs876657389, rs1553181370, rs1064796294, rs1570753525	RCV004546448 RCV004579659 RCV004546507 RCV001007896	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	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
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	25751627	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25751627, 26648591, 28806589, 32540721, 33232902, 34576077	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	34576077	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	33802230	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29263036		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25751627, 37883018	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	33837257	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29050392		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22612818, 27733563, 29050392, 29542386		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28806589, 32833227, 33232902, 33802230, 34576077, 35439054, 37883018	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25751627, 27117551, 27733563, 28806589, 30055040, 30292882		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	30292882, 31075689, 32540721, 33802230	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32	Epileptic encephalopathy	CLINVAR_DG	25477152, 25751627, 27457812, 27543892, 27733563, 28032718		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32	Epileptic encephalopathy	UNIPROT_DG	25477152, 25751627		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27543892		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	27733563		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	33802230	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	33802230	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29263036		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	27543892		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30055040		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	25751627		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	25751627, 33802230, 34576077	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language Development Disorders	CTD_human_DG	25751627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	27619201		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29056068		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11331357, 12127166, 12214225, 1377421, 14765197, 15694325, 16002579, 16002581, 16075038, 16704338, 1706481, 17634333, 20696761, 21044565, 25477152, 25751627, 26648591, 27062609, 27117551, 27543892, 27733563, 28019717, 28032718, 8046438, 8158277, 8663992, 8663993, 9525859		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33802230	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	25477152		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32833227	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25751627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	20581741		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	27062609		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	25751627, 28806589, 33802230	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	33802230, 40414079	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	27543892		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28806589		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	28806589, 33232902	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	28806589		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29263036		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	25751627		★☆☆☆☆ Found in Text Mining only