Spinocerebellar Ataxia Type 19/22 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN247 MIFTS: 36	Spinocerebellar Ataxia Type 19/22 Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spinocerebellar Ataxia Type 19/22

MalaCards integrated aliases for Spinocerebellar Ataxia Type 19/22:

Name: Spinocerebellar Ataxia Type 19/22 ¹² ²⁹ ⁶ ¹⁵

Spinocerebellar Ataxia 19 and 22 ⁵²

Sca19/22 ⁵²

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050970

SNOMED-CT via HPO ⁶⁸ 16110005 165232002 228158008 more

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Summaries for Spinocerebellar Ataxia Type 19/22

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98772 Definition Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Epidemiology Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. Clinical description SCA19 presents in the 3rd decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 (see this term) overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years. Etiology Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified. Prognosis Prognosis is good. SCA19 does not impact life expectancy to any major extent, and some patients live to over 80 years of age. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia Type 19/22, also known as spinocerebellar ataxia 19 and 22, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia 19, and has symptoms including gait ataxia, cerebellar ataxia and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia Type 19/22 is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include testes, and related phenotypes are difficulty walking and hyperreflexia

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.

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Related Diseases for Spinocerebellar Ataxia Type 19/22

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 2
Spinocerebellar Ataxia, Autosomal Recessive 2	Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4	Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14	Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17	Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19	Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18	Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20	Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26	Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23	Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8	Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30	Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35	Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36	Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12	Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14	Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16	Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38	Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17	Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20	Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21	Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22	Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43	Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25	Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44	Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46	Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48	Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28	Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia	Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia Type 19/22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant cerebellar ataxia	29.6	KCND3 GRM1 FGF14
2	spinocerebellar ataxia 19	11.6
3	ataxia and polyneuropathy, adult-onset	10.4
4	brugada syndrome 9	10.0	LAMA4 KCND3
5	cerebellar ataxia type 41	10.0	KCND3 GRM1
6	myasthenic syndrome, congenital, 5	9.9	KCNIP2 KCND3
7	short qt syndrome	9.8	KCNIP2 KCND3
8	episodic ataxia, type 1	9.8	KCND3 KCNC1
9	catecholaminergic polymorphic ventricular tachycardia	9.7	LAMA4 KCND3
10	cerebellar ataxia type 9	9.7	KCND3 FGF14
11	spinocerebellar ataxia 30	9.7	KCND3 FGF14
12	long qt syndrome 1	9.6	KCNIP2 KCND3
13	cerebellar disease	9.5	GRM1 FGF14
14	spinocerebellar ataxia 13	9.3	KCND3 KCNC1 FGF14
15	hereditary ataxia	9.3	KCND3 GRM1 FGF14
16	episodic ataxia	9.3	KCND3 KCNC1 FGF14
17	familial atrial fibrillation	9.2	LAMA4 KCNIP2 KCND3 KCNC1
18	brugada syndrome	9.2	LAMA4 KCNIP2 KCND3 KCNC1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia Type 19/22:

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Symptoms & Phenotypes for Spinocerebellar Ataxia Type 19/22

Human phenotypes related to Spinocerebellar Ataxia Type 19/22:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	difficulty walking ³¹	hallmark (90%)	HP:0002355
2	hyperreflexia ³¹	frequent (33%)	HP:0001347
3	hyporeflexia ³¹	frequent (33%)	HP:0001265
4	cerebellar atrophy ³¹	frequent (33%)	HP:0001272
5	urinary incontinence ³¹	frequent (33%)	HP:0000020
6	postural instability ³¹	frequent (33%)	HP:0002172
7	limb ataxia ³¹	frequent (33%)	HP:0002070
8	truncal ataxia ³¹	frequent (33%)	HP:0002078
9	impaired vibration sensation at ankles ³¹	frequent (33%)	HP:0006938
10	nystagmus ³¹	occasional (7.5%)	HP:0000639
11	slurred speech ³¹	occasional (7.5%)	HP:0001350
12	ophthalmoplegia ³¹	occasional (7.5%)	HP:0000602
13	dysarthria ³¹	occasional (7.5%)	HP:0001260
14	broad-based gait ³¹	occasional (7.5%)	HP:0002136
15	diplopia ³¹	occasional (7.5%)	HP:0000651
16	cogwheel rigidity ³¹	occasional (7.5%)	HP:0002396
17	impaired smooth pursuit ³¹	occasional (7.5%)	HP:0007772
18	poor coordination ³¹	occasional (7.5%)	HP:0002370

UMLS symptoms related to Spinocerebellar Ataxia Type 19/22:

gait ataxia, cerebellar ataxia, ataxia, truncal

MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 19/22:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.92	FGF14 GRM1 KCNC1 LAMA4

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Drugs & Therapeutics for Spinocerebellar Ataxia Type 19/22

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia Type 19/22

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Genetic Tests for Spinocerebellar Ataxia Type 19/22

Genetic tests related to Spinocerebellar Ataxia Type 19/22:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia Type 19/22 ²⁹	KCND3

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Anatomical Context for Spinocerebellar Ataxia Type 19/22

MalaCards organs/tissues related to Spinocerebellar Ataxia Type 19/22:

⁴⁰

Testes

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Publications for Spinocerebellar Ataxia Type 19/22

Articles related to Spinocerebellar Ataxia Type 19/22:

#	Title	Authors	PMID	Year
1	Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. ⁶¹	Wang J...Bao X	30776697	2019
2	Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia. ⁶¹	Ishibashi K...Ishii K	27502082	2016
3	Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. ⁶¹	Duarri A...Verbeek DS	25854634	2015

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Genes for Spinocerebellar Ataxia Type 19/22

Genes related to Spinocerebellar Ataxia Type 19/22 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	527.21	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
2	LAMA4	Laminin Subunit Alpha 4	Protein Coding	7.78	GeneCards inferred via : Variants (show sections)
3	KCNIP2	Potassium Voltage-Gated Channel Interacting Protein 2	Protein Coding	6.69	DISEASES inferred ¹⁵
4	KCNC1	Potassium Voltage-Gated Channel Subfamily C Member 1	Protein Coding	6.29	DISEASES inferred ¹⁵
5	FGF14	Fibroblast Growth Factor 14	Protein Coding	6.29	DISEASES inferred ¹⁵
6	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	5.43	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia Type 19/22

ClinVar genetic disease variations for Spinocerebellar Ataxia Type 19/22:

⁶ (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KCND3	NM_004980.4(KCND3):c.1013T>A (p.Val338Glu)	SNV	Pathogenic	626317		1:112524336-112524336	1:111981714-111981714
2	KCND3	NM_004980.4(KCND3):c.950G>A (p.Cys317Tyr)	SNV	Pathogenic	626316		1:112524399-112524399	1:111981777-111981777
3	KCND3	NM_004980.4(KCND3):c.1130C>T (p.Thr377Met)	SNV	Pathogenic	626319		1:112329705-112329705	1:111787083-111787083
4	KCND3	NM_004980.4(KCND3):c.1123C>T (p.Pro375Ser)	SNV	Pathogenic	626318		1:112329712-112329712	1:111787090-111787090
5	KCND3	NM_172198.2(KCND3):c.677_679TCT[1] (p.Phe227del)	short repeat	Pathogenic	66061	rs397515475	1:112524667-112524669	1:111982045-111982047
6	KCND3	NM_004980.4(KCND3):c.1054A>C (p.Thr352Pro)	SNV	Pathogenic	66062	rs397515476	1:112524295-112524295	1:111981673-111981673
7	KCND3	NM_004980.4(KCND3):c.1034G>T (p.Gly345Val)	SNV	Pathogenic	211216	rs797045634	1:112524315-112524315	1:111981693-111981693
8	KCND3	NM_004980.4(KCND3):c.1153T>C (p.Ser385Pro)	SNV	Pathogenic	375399	rs1057519453	1:112329682-112329682	1:111787060-111787060
9	KCND3	NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg)	SNV	Pathogenic/Likely pathogenic	383943	rs1057521793	1:112329724-112329724	1:111787102-111787102
10	KCND3	NC_000001.11:g.111981657G>A	SNV	Likely pathogenic	827788		1:112524279-112524279	1:111981657-111981657
11	KCND3	NM_004980.4(KCND3):c.641A>G (p.Lys214Arg)	SNV	Conflicting interpretations of pathogenicity	222665	rs142744204	1:112524708-112524708	1:111982086-111982086
12	KCND3	NM_004980.4(KCND3):c.5C>A (p.Ala2Glu)	SNV	Conflicting interpretations of pathogenicity	372391	rs201340369	1:112525344-112525344	1:111982722-111982722
13	KCND3	NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe)	SNV	Conflicting interpretations of pathogenicity	192253	rs150401343	1:112323335-112323335	1:111780713-111780713
14	KCND3	NM_004980.4(KCND3):c.1174G>A (p.Val392Ile)	SNV	Conflicting interpretations of pathogenicity	192255	rs786205867	1:112329661-112329661	1:111787039-111787039
15	KCND3	NM_004980.4(KCND3):c.1456A>G (p.Thr486Ala)	SNV	Conflicting interpretations of pathogenicity	415286	rs149008060	1:112322852-112322852	1:111780230-111780230
16	KCND3	NM_004980.4(KCND3):c.1354G>A (p.Glu452Lys)	SNV	Conflicting interpretations of pathogenicity	447626	rs200532657	1:112323329-112323329	1:111780707-111780707
17	LAMA4	NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)	SNV	Conflicting interpretations of pathogenicity	488160	rs547323858	6:112454047-112454047	6:112132845-112132845
18	KCND3	NM_004980.4(KCND3):c.1313C>G (p.Ser438Trp)	SNV	Uncertain significance	465164	rs1172444288	1:112323370-112323370	1:111780748-111780748
19	KCND3	NM_004980.4(KCND3):c.1756C>G (p.Leu586Val)	SNV	Uncertain significance	519297	rs778053688	1:112319658-112319658	1:111777036-111777036
20	KCND3	NM_004980.4(KCND3):c.1924A>T (p.Ile642Phe)	SNV	Uncertain significance	533724	rs754759010	1:112318743-112318743	1:111776121-111776121
21	KCND3	NM_004980.4(KCND3):c.1518+4T>C	SNV	Uncertain significance	533726	rs1553235925	1:112321054-112321054	1:111778432-111778432
22	KCND3	NM_004980.4(KCND3):c.1336C>T (p.Arg446Cys)	SNV	Uncertain significance	533725	rs756087542	1:112323347-112323347	1:111780725-111780725
23	KCND3	NM_004980.4(KCND3):c.1703G>A (p.Arg568His)	SNV	Uncertain significance	533722	rs200212002	1:112319711-112319711	1:111777089-111777089
24	KCND3	NM_004980.4(KCND3):c.1601C>T (p.Pro534Leu)	SNV	Uncertain significance	465166	rs1553235768	1:112319813-112319813	1:111777191-111777191
25	KCND3	NM_004980.4(KCND3):c.1917C>A (p.Asn639Lys)	SNV	Uncertain significance	465168	rs777172603	1:112318750-112318750	1:111776128-111776128
26	KCND3	NM_004980.4(KCND3):c.89C>A (p.Ala30Asp)	SNV	Uncertain significance	465169	rs1307934269	1:112525260-112525260	1:111982638-111982638
27	KCND3	NM_004980.4(KCND3):c.1709T>C (p.Met570Thr)	SNV	Uncertain significance	465167	rs1553235743	1:112319705-112319705	1:111777083-111777083
28	KCND3	NM_004980.4(KCND3):c.1269+6C>T	SNV	Uncertain significance	408900	rs1060502174	1:112329560-112329560	1:111786938-111786938
29	KCND3	NM_004980.4(KCND3):c.1849A>G (p.Ile617Val)	SNV	Uncertain significance	533723	rs948125814	1:112318818-112318818	1:111776196-111776196
30	KCND3	NM_004980.4(KCND3):c.1934T>C (p.Ile645Thr)	SNV	Uncertain significance	579054	rs1557929628	1:112318733-112318733	1:111776111-111776111
31	KCND3	NM_004980.4(KCND3):c.1741A>T (p.Ser581Cys)	SNV	Uncertain significance	577665	rs1420542041	1:112319673-112319673	1:111777051-111777051
32	KCND3	NM_004980.4(KCND3):c.1496C>G (p.Ser499Cys)	SNV	Uncertain significance	570216	rs976664434	1:112321080-112321080	1:111778458-111778458
33	KCND3	NM_004980.4(KCND3):c.1879G>A (p.Gly627Arg)	SNV	Uncertain significance	647173		1:112318788-112318788	1:111776166-111776166
34	KCND3	NM_004980.4(KCND3):c.1784T>G (p.Leu595Trp)	SNV	Uncertain significance	655552		1:112318883-112318883	1:111776261-111776261
35	KCND3	NM_004980.4(KCND3):c.1339A>G (p.Asn447Asp)	SNV	Uncertain significance	663733		1:112323344-112323344	1:111780722-111780722
36	KCND3	NM_004980.4(KCND3):c.257G>A (p.Arg86Gln)	SNV	Uncertain significance	689484		1:112525092-112525092	1:111982470-111982470
37	KCND3	NM_004980.4(KCND3):c.1646G>A (p.Arg549His)	SNV	Uncertain significance	264530	rs35027371	1:112319768-112319768	1:111777146-111777146
38	KCND3	NC_000001.11:g.111778452C>T	SNV	Uncertain significance	837098		1:112321074-112321074	1:111778452-111778452
39	KCND3	NC_000001.11:g.111982279C>T	SNV	Uncertain significance	838739		1:112524901-112524901	1:111982279-111982279
40	KCND3	NM_004980.4(KCND3):c.519C>T (p.Phe173=)	SNV	Likely benign	697110		1:112524830-112524830	1:111982208-111982208
41	KCND3	NM_004980.4(KCND3):c.618G>A (p.Pro206=)	SNV	Likely benign	701177		1:112524731-112524731	1:111982109-111982109
42	KCND3	NM_004980.4(KCND3):c.9C>T (p.Ala3=)	SNV	Likely benign	701218		1:112525340-112525340	1:111982718-111982718
43	KCND3	NM_004980.4(KCND3):c.1372-6T>C	SNV	Likely benign	533727	rs765435324	1:112322942-112322942	1:111780320-111780320
44	KCND3	NM_004980.4(KCND3):c.117T>C (p.Asp39=)	SNV	Benign/Likely benign	415284	rs12720446	1:112525232-112525232	1:111982610-111982610
45	KCND3	NM_004980.4(KCND3):c.1959C>T (p.Ser653=)	SNV	Benign/Likely benign	508338	rs147087785	1:112318708-112318708	1:111776086-111776086
46	KCND3	NM_004980.4(KCND3):c.459G>A (p.Ser153=)	SNV	Benign/Likely benign	510042	rs755206508	1:112524890-112524890	1:111982268-111982268
47	KCND3	NM_004980.4(KCND3):c.1308C>G (p.Gly436=)	SNV	Benign/Likely benign	465163	rs190703406	1:112323375-112323375	1:111780753-111780753
48	KCND3	NM_004980.4(KCND3):c.207G>A (p.Thr69=)	SNV	Benign/Likely benign	586065	rs751347311	1:112525142-112525142	1:111982520-111982520
49	KCND3	NM_004980.4(KCND3):c.627G>C (p.Thr209=)	SNV	Benign/Likely benign	264148	rs149299911	1:112524722-112524722	1:111982100-111982100
50	KCND3	NM_004980.4(KCND3):c.633G>T (p.Pro211=)	SNV	Benign/Likely benign	240083	rs35131566	1:112524716-112524716	1:111982094-111982094

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Expression for Spinocerebellar Ataxia Type 19/22

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type 19/22.

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Pathways for Spinocerebellar Ataxia Type 19/22

Pathways related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.29	KCND3 KCNC1 GRM1
2	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.06	KCNIP2 KCND3 FGF14
3	Potassium Channels ⁶⁵ Show member pathways HCN channels ⁶⁵ Voltage gated Potassium channels ⁶⁵	11.49	KCND3 KCNC1
4	Spinocerebellar ataxia ³⁶	10.92	KCND3 GRM1 FGF14
5	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.7	KCNIP2 KCND3

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GO Terms for Spinocerebellar Ataxia Type 19/22

Cellular components related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dendrite	GO:0030425	9.13	KCND3 KCNC1 GRM1
2	voltage-gated potassium channel complex	GO:0008076	8.8	KCNIP2 KCND3 KCNC1

Biological processes related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.69	KCNIP2 KCND3 KCNC1
2	regulation of ion transmembrane transport	GO:0034765	9.54	KCNIP2 KCND3 KCNC1
3	potassium ion transport	GO:0006813	9.5	KCNIP2 KCND3 KCNC1
4	protein homooligomerization	GO:0051260	9.49	KCND3 KCNC1
5	regulation of postsynaptic membrane potential	GO:0060078	9.48	GRM1 FGF14
6	cardiac conduction	GO:0061337	9.46	KCNIP2 KCND3
7	regulation of potassium ion transmembrane transport	GO:1901379	9.43	KCNIP2 KCNC1
8	potassium ion transmembrane transport	GO:0071805	9.43	KCNIP2 KCND3 KCNC1
9	potassium ion export across plasma membrane	GO:0097623	9.4	KCNIP2 KCND3
10	membrane repolarization	GO:0086009	9.16	KCNIP2 KCND3
11	positive regulation of voltage-gated potassium channel activity	GO:1903818	8.96	KCNIP2 KCNC1
12	membrane repolarization during cardiac muscle cell action potential	GO:0086013	8.62	KCNIP2 KCND3

Molecular functions related to Spinocerebellar Ataxia Type 19/22 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated ion channel activity	GO:0005244	9.5	KCNIP2 KCND3 KCNC1
2	ion channel binding	GO:0044325	9.43	KCNIP2 KCND3 KCNC1
3	voltage-gated potassium channel activity	GO:0005249	9.37	KCND3 KCNC1
4	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.16	KCNIP2 KCND3
5	potassium channel activity	GO:0005267	9.13	KCNIP2 KCND3 KCNC1
6	A-type (transient outward) potassium channel activity	GO:0005250	8.62	KCNIP2 KCND3

Sources

Sources for Spinocerebellar Ataxia Type 19/22

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia