KCTD7 (potassium channel tetramerization domain containing 7)

Gene

• Entrez ID: 154881
• Gene name: Potassium channel tetramerization domain containing 7
• Gene symbol: KCTD7
• Synonyms (NCBI Gene): CLN14, EPM3
• Chromosome: 7
• Chromosome location: 7q11.21
• Summary: This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139585796	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140932942	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199624315	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200652879	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs201296399	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607199	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs368001837	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs372150992	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs376944331	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387907246	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387907260	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs387907261	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs387907262	G>T	Pathogenic	Missense variant, coding sequence variant
rs387907263	C>A	Pathogenic	Missense variant, coding sequence variant
rs587780370	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs727502785	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs747676224	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs750811871	C>T	Pathogenic	Stop gained, coding sequence variant
rs774026720	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs796052686	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, synonymous variant
rs796052688	TCCAGCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052689	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554397774	A>G	Likely-pathogenic	Splice acceptor variant
rs1554397834	G>A	Likely-pathogenic	Splice donor variant
rs1584399108	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051052	hsa-miR-17-5p	CLASH	23622248
MIRT048921	hsa-miR-92a-3p	CLASH	23622248
MIRT044637	hsa-miR-320a	CLASH	23622248
MIRT620881	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620880	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT620879	hsa-miR-1912	HITS-CLIP	23824327
MIRT620878	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT620877	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT620876	hsa-miR-4469	HITS-CLIP	23824327
MIRT620875	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT620874	hsa-miR-4287	HITS-CLIP	23824327
MIRT620873	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT620872	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT620871	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT620881	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620880	hsa-miR-1295b-5p	HITS-CLIP	23824327
MIRT620879	hsa-miR-1912	HITS-CLIP	23824327
MIRT620878	hsa-miR-3130-5p	HITS-CLIP	23824327
MIRT620877	hsa-miR-4482-5p	HITS-CLIP	23824327
MIRT620876	hsa-miR-4469	HITS-CLIP	23824327
MIRT620875	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT620874	hsa-miR-4287	HITS-CLIP	23824327
MIRT620873	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT620872	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT620871	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT1083570	hsa-miR-1185	CLIP-seq
MIRT1083571	hsa-miR-122	CLIP-seq
MIRT1083572	hsa-miR-1245	CLIP-seq
MIRT1083573	hsa-miR-128	CLIP-seq
MIRT1083574	hsa-miR-1294	CLIP-seq
MIRT1083575	hsa-miR-129-5p	CLIP-seq
MIRT1083576	hsa-miR-1324	CLIP-seq
MIRT1083577	hsa-miR-155	CLIP-seq
MIRT1083578	hsa-miR-1976	CLIP-seq
MIRT1083579	hsa-miR-31	CLIP-seq
MIRT1083580	hsa-miR-3135b	CLIP-seq
MIRT1083581	hsa-miR-3157-5p	CLIP-seq
MIRT1083582	hsa-miR-3198	CLIP-seq
MIRT1083583	hsa-miR-323-3p	CLIP-seq
MIRT1083584	hsa-miR-330-3p	CLIP-seq
MIRT1083585	hsa-miR-342-3p	CLIP-seq
MIRT1083586	hsa-miR-3605-5p	CLIP-seq
MIRT1083587	hsa-miR-365	CLIP-seq
MIRT1083588	hsa-miR-3652	CLIP-seq
MIRT1083589	hsa-miR-3679-5p	CLIP-seq
MIRT1083590	hsa-miR-3692	CLIP-seq
MIRT1083591	hsa-miR-377	CLIP-seq
MIRT1083592	hsa-miR-3913-3p	CLIP-seq
MIRT1083593	hsa-miR-3922-5p	CLIP-seq
MIRT1083594	hsa-miR-3977	CLIP-seq
MIRT1083595	hsa-miR-4309	CLIP-seq
MIRT1083596	hsa-miR-4316	CLIP-seq
MIRT1083597	hsa-miR-4318	CLIP-seq
MIRT1083598	hsa-miR-432	CLIP-seq
MIRT1083599	hsa-miR-4423-5p	CLIP-seq
MIRT1083600	hsa-miR-4430	CLIP-seq
MIRT1083601	hsa-miR-4437	CLIP-seq
MIRT1083602	hsa-miR-4677-3p	CLIP-seq
MIRT1083603	hsa-miR-4680-5p	CLIP-seq
MIRT1083604	hsa-miR-4691-3p	CLIP-seq
MIRT1083605	hsa-miR-4693-5p	CLIP-seq
MIRT1083606	hsa-miR-4719	CLIP-seq
MIRT1083607	hsa-miR-4722-3p	CLIP-seq
MIRT1083608	hsa-miR-513c	CLIP-seq
MIRT1083609	hsa-miR-514b-5p	CLIP-seq
MIRT1083610	hsa-miR-520a-5p	CLIP-seq
MIRT1083611	hsa-miR-525-5p	CLIP-seq
MIRT1083612	hsa-miR-622	CLIP-seq
MIRT1083613	hsa-miR-892a	CLIP-seq
MIRT1083614	hsa-miR-938	CLIP-seq
MIRT1083615	hsa-miR-1252	CLIP-seq
MIRT1083590	hsa-miR-3692	CLIP-seq
MIRT1083616	hsa-miR-3919	CLIP-seq
MIRT1083617	hsa-miR-4477b	CLIP-seq
MIRT1083618	hsa-miR-4533	CLIP-seq
MIRT1083606	hsa-miR-4719	CLIP-seq
MIRT1083619	hsa-miR-4756-3p	CLIP-seq
MIRT2021058	hsa-miR-103a	CLIP-seq
MIRT2021059	hsa-miR-107	CLIP-seq
MIRT1083573	hsa-miR-128	CLIP-seq
MIRT1083575	hsa-miR-129-5p	CLIP-seq
MIRT1083577	hsa-miR-155	CLIP-seq
MIRT2021060	hsa-miR-15a	CLIP-seq
MIRT2021061	hsa-miR-15b	CLIP-seq
MIRT2021062	hsa-miR-16	CLIP-seq
MIRT2021063	hsa-miR-195	CLIP-seq
MIRT2021064	hsa-miR-3127-3p	CLIP-seq
MIRT1083580	hsa-miR-3135b	CLIP-seq
MIRT2021065	hsa-miR-3143	CLIP-seq
MIRT1083581	hsa-miR-3157-5p	CLIP-seq
MIRT2021066	hsa-miR-3168	CLIP-seq
MIRT2021067	hsa-miR-3173-3p	CLIP-seq
MIRT1083588	hsa-miR-3652	CLIP-seq
MIRT2021068	hsa-miR-3688-3p	CLIP-seq
MIRT2021069	hsa-miR-3689d	CLIP-seq
MIRT1083590	hsa-miR-3692	CLIP-seq
MIRT1083591	hsa-miR-377	CLIP-seq
MIRT2021070	hsa-miR-3928	CLIP-seq
MIRT2021071	hsa-miR-424	CLIP-seq
MIRT2021072	hsa-miR-4303	CLIP-seq
MIRT2021073	hsa-miR-4323	CLIP-seq
MIRT1083599	hsa-miR-4423-5p	CLIP-seq
MIRT1083600	hsa-miR-4430	CLIP-seq
MIRT2021074	hsa-miR-4524	CLIP-seq
MIRT2021075	hsa-miR-4683	CLIP-seq
MIRT2021076	hsa-miR-4699-3p	CLIP-seq
MIRT1083606	hsa-miR-4719	CLIP-seq
MIRT2021077	hsa-miR-4726-3p	CLIP-seq
MIRT2021078	hsa-miR-4753-5p	CLIP-seq
MIRT2021079	hsa-miR-4768-3p	CLIP-seq
MIRT2021080	hsa-miR-497	CLIP-seq
MIRT2021081	hsa-miR-503	CLIP-seq
MIRT2021082	hsa-miR-526b	CLIP-seq
MIRT2021083	hsa-miR-543	CLIP-seq
MIRT2021084	hsa-miR-646	CLIP-seq
MIRT1083571	hsa-miR-122	CLIP-seq
MIRT1083572	hsa-miR-1245	CLIP-seq
MIRT1083573	hsa-miR-128	CLIP-seq
MIRT2252688	hsa-miR-1343	CLIP-seq
MIRT2252689	hsa-miR-135a	CLIP-seq
MIRT2252690	hsa-miR-135b	CLIP-seq
MIRT1083578	hsa-miR-1976	CLIP-seq
MIRT2252691	hsa-miR-2355-5p	CLIP-seq
MIRT2252692	hsa-miR-2467-5p	CLIP-seq
MIRT1083580	hsa-miR-3135b	CLIP-seq
MIRT2252693	hsa-miR-3188	CLIP-seq
MIRT1083582	hsa-miR-3198	CLIP-seq
MIRT2252694	hsa-miR-3199	CLIP-seq
MIRT1083588	hsa-miR-3652	CLIP-seq
MIRT2252695	hsa-miR-3667-3p	CLIP-seq
MIRT2021069	hsa-miR-3689d	CLIP-seq
MIRT2252696	hsa-miR-378g	CLIP-seq
MIRT2252697	hsa-miR-383	CLIP-seq
MIRT1083592	hsa-miR-3913-3p	CLIP-seq
MIRT2252698	hsa-miR-3975	CLIP-seq
MIRT2252699	hsa-miR-4266	CLIP-seq
MIRT2252700	hsa-miR-4277	CLIP-seq
MIRT2252701	hsa-miR-4286	CLIP-seq
MIRT2021072	hsa-miR-4303	CLIP-seq
MIRT1083595	hsa-miR-4309	CLIP-seq
MIRT2252702	hsa-miR-4311	CLIP-seq
MIRT2252703	hsa-miR-4325	CLIP-seq
MIRT2252704	hsa-miR-4326	CLIP-seq
MIRT1083599	hsa-miR-4423-5p	CLIP-seq
MIRT1083600	hsa-miR-4430	CLIP-seq
MIRT2252705	hsa-miR-4434	CLIP-seq
MIRT1083601	hsa-miR-4437	CLIP-seq
MIRT2252706	hsa-miR-4516	CLIP-seq
MIRT2252707	hsa-miR-4674	CLIP-seq
MIRT2252708	hsa-miR-4708-5p	CLIP-seq
MIRT1083607	hsa-miR-4722-3p	CLIP-seq
MIRT2021078	hsa-miR-4753-5p	CLIP-seq
MIRT2252709	hsa-miR-4772-5p	CLIP-seq
MIRT2252710	hsa-miR-4793-5p	CLIP-seq
MIRT2252711	hsa-miR-485-5p	CLIP-seq
MIRT2252712	hsa-miR-501-5p	CLIP-seq
MIRT1083610	hsa-miR-520a-5p	CLIP-seq
MIRT1083611	hsa-miR-525-5p	CLIP-seq
MIRT2252713	hsa-miR-651	CLIP-seq
MIRT2021076	hsa-miR-4699-3p	CLIP-seq
MIRT2555775	hsa-miR-1228	CLIP-seq
MIRT2555776	hsa-miR-1265	CLIP-seq
MIRT2021060	hsa-miR-15a	CLIP-seq
MIRT2021061	hsa-miR-15b	CLIP-seq
MIRT2021062	hsa-miR-16	CLIP-seq
MIRT2021063	hsa-miR-195	CLIP-seq
MIRT2555777	hsa-miR-3074-3p	CLIP-seq
MIRT2555778	hsa-miR-3161	CLIP-seq
MIRT2021067	hsa-miR-3173-3p	CLIP-seq
MIRT2555779	hsa-miR-3177-5p	CLIP-seq
MIRT2555780	hsa-miR-337-3p	CLIP-seq
MIRT2555781	hsa-miR-338-3p	CLIP-seq
MIRT2555782	hsa-miR-340	CLIP-seq
MIRT2555783	hsa-miR-3622a-3p	CLIP-seq
MIRT2555784	hsa-miR-3622a-5p	CLIP-seq
MIRT2555785	hsa-miR-3622b-3p	CLIP-seq
MIRT2021069	hsa-miR-3689d	CLIP-seq
MIRT1083591	hsa-miR-377	CLIP-seq
MIRT2021071	hsa-miR-424	CLIP-seq
MIRT2021072	hsa-miR-4303	CLIP-seq
MIRT2555786	hsa-miR-4423-3p	CLIP-seq
MIRT2021074	hsa-miR-4524	CLIP-seq
MIRT2555787	hsa-miR-4530	CLIP-seq
MIRT2555788	hsa-miR-4643	CLIP-seq
MIRT2555789	hsa-miR-4666-5p	CLIP-seq
MIRT2555790	hsa-miR-4690-3p	CLIP-seq
MIRT2555791	hsa-miR-4691-5p	CLIP-seq
MIRT2555792	hsa-miR-4694-5p	CLIP-seq
MIRT2555793	hsa-miR-4699-5p	CLIP-seq
MIRT2555794	hsa-miR-4711-3p	CLIP-seq
MIRT2555795	hsa-miR-4773	CLIP-seq
MIRT2021080	hsa-miR-497	CLIP-seq
MIRT2021081	hsa-miR-503	CLIP-seq
MIRT2021084	hsa-miR-646	CLIP-seq
MIRT2555796	hsa-miR-648	CLIP-seq
MIRT2555797	hsa-miR-668	CLIP-seq
MIRT2555798	hsa-miR-766	CLIP-seq
MIRT2555775	hsa-miR-1228	CLIP-seq
MIRT2683263	hsa-miR-1305	CLIP-seq
MIRT2683264	hsa-miR-3183	CLIP-seq
MIRT2555780	hsa-miR-337-3p	CLIP-seq
MIRT2555781	hsa-miR-338-3p	CLIP-seq
MIRT2555782	hsa-miR-340	CLIP-seq
MIRT2683265	hsa-miR-346	CLIP-seq
MIRT2555787	hsa-miR-4530	CLIP-seq
MIRT2555790	hsa-miR-4690-3p	CLIP-seq
MIRT2555791	hsa-miR-4691-5p	CLIP-seq
MIRT2555794	hsa-miR-4711-3p	CLIP-seq
MIRT2683266	hsa-miR-4723-3p	CLIP-seq
MIRT2555797	hsa-miR-668	CLIP-seq
MIRT2555798	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22748208, 32296183, 38225382
GO:0005737	Component	Cytoplasm	IDA	22748208
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22748208
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0051260	Process	Protein homooligomerization	IEA
GO:0060081	Process	Membrane hyperpolarization	IBA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0090461	Process	Intracellular glutamate homeostasis	IMP	27742667

Other IDs

• MIM: 611725
• HGNC: 21957
• e!Ensembl: ENSG00000243335

Protein

• UniProt ID: Q96MP8
• Protein name: BTB/POZ domain-containing protein KCTD7
• Protein function: May be involved in the control of excitability of cortical neurons.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	53 → 141	BTB/POZ domain	Domain

• Sequence:

  MVVVTGREPDSRRQDGAMSSSDAEDDFLEPATPTATQAGHALPLLPQEFPEVVPLNIGGA
  HFTTRLSTLRCYEDTMLAAMFSGRHYIPTDSEGRYFIDRDGTHFGDVLNFLRSGDLPPRE
  RVRAVYKEAQYYAIGPLLEQLENMQPLKGEKVRQAFLGLMPYYKDHLERIVEIARLRAVQ
  RKARFAKLKVCVFKEEMPITPYECPLLNSLRFERSESDGQLFEHHCEVDVSFGPWEAVAD
  VYDLLHCLVTDLSAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW

• Sequence length: 289

Pathways

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

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
Epilepsy, progressive myoclonic, 3, with intracellular inclusions	Likely pathogenic; Pathogenic	rs387907246	RCV000030608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1584399108	RCV001003965	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs750811871	RCV005625595	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCTD7-related disorder	Likely pathogenic; Pathogenic	rs141191660	RCV004754810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs2116775575, rs745960603, rs2116773941, rs387907246	RCV001797958 RCV002281884 RCV003226609 RCV001582502	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive myoclonic epilepsy	Likely pathogenic	rs1554397774	RCV005357820	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive myoclonic epilepsy type 3	Pathogenic; Likely pathogenic	rs2116773782, rs2116775490, rs2116775509, rs2116774137, rs765235486, rs2116763829, rs2116755694, rs141191660, rs1207922864, rs267607199, rs367608044, rs1440055692, rs2535241170, rs2535241375, rs2535233194, rs2535251918, rs750811871, rs387907246, rs727502785, rs387907261, rs387907262, rs387907263, rs1554397774, rs1554397834, rs747676224, rs1786631768	RCV001381652 RCV001548756 RCV001844363 RCV001782331 RCV001806368 RCV001806391 RCV001999824 RCV001933893 RCV001903883 RCV000000886 RCV003088277 RCV003100267 RCV003228711 RCV003448789 RCV003496984 RCV003993519 RCV002272231 RCV000548914 RCV000030686 RCV000030688 RCV000030689 RCV000030690 RCV001042252 RCV000645674 RCV000985179 RCV001067132	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CLN14 DISEASE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal ceroid lipofuscinosis 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONUS EPILEPSY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	25060828	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	31197948		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30500434		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31813354		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	31197948		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	BEFREE	30295347		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsia Partialis Continua	Epilepsia Partialis Continua	BEFREE	30500434		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	25060828	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	25060828	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30825425		★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	29789371	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, PROGRESSIVE MYOCLONIC 3	Myoclonic Epilepsy	UNIPROT_DG	17455289, 22606975, 22612257, 22693283, 22748208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 3	Myoclonic Epilepsy	ORPHANET_DG	22693283, 22748208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 3	Myoclonic Epilepsy	CLINVAR_DG	22693283, 2274208, 22748208, 27742667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 3	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	22748208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 3	Myoclonic Epilepsy	BEFREE	30295347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 3	Myoclonic Epilepsy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal myoclonic seizures	Focal myoclonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31674730	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31197948		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15778103, 17455289, 19084560, 21710140, 22606975, 22638565, 22693283, 22748208, 25060828, 27742667		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30295347, 31197948		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	30295347	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	LHGDN	17455289		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	21710140, 22606975, 22638565, 27629772, 27742667, 30295347, 30500434, 31175897		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	30500434		★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	31197948		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30295347	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30295347		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	22748208, 23274885, 26443629, 30295347, 30500434		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	GENOMICS_ENGLAND_DG	22748208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	31197948		★☆☆☆☆ Found in Text Mining only
Opsoclonus-Myoclonus Syndrome	Opsoclonus-myoclonus syndrome	BEFREE	22638565		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Photomyoclonic seizures	Photomyoclonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia	Proteasome-associated autoinflammatory syndrome	BEFREE	25060828		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive myoclonic epilepsy type 3	Progressive Myoclonic Epilepsy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Schizophrenia	BEFREE	31197948		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30295347	Associate	★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	21710140, 22606975, 22693283, 22748208, 27629772, 30295347, 30825425, 31175897		★☆☆☆☆ Found in Text Mining only