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

MCID: SPN247 MIFTS: 38	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

Sources

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 ²⁰

Sca19/22 ²⁰

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

Sources

Summaries for Spinocerebellar Ataxia Type 19/22

GARD : ²⁰ 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.

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 eye, liver and heart, 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.

Sources

Related Diseases for Spinocerebellar Ataxia Type 19/22

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 6
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 21)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant cerebellar ataxia	29.5	KCND3 GRM1 FGF14
2	spinocerebellar ataxia 19	11.4
3	ataxia and polyneuropathy, adult-onset	10.2
4	parkinsonism	10.0
5	epilepsy	10.0
6	brugada syndrome 9	10.0	LAMA4 KCND3
7	cerebellar ataxia type 41	10.0	KCND3 GRM1
8	myasthenic syndrome, congenital, 5	9.9	KCNIP2 KCND3
9	episodic ataxia, type 1	9.9	KCND3 KCNC1
10	long qt syndrome 2	9.9	KCNIP2 KCND3
11	cerebellar ataxia type 9	9.8	KCND3 FGF14
12	catecholaminergic polymorphic ventricular tachycardia	9.8	LAMA4 KCND3
13	spinocerebellar ataxia 30	9.8	KCND3 FGF14
14	heart conduction disease	9.6	KCNIP2 KCND3 KCNC1
15	cerebellar disease	9.6	KCND3 GRM1 FGF14
16	hereditary ataxia	9.5	KCND3 GRM1 FGF14
17	dentatorubral-pallidoluysian atrophy	9.5	KCND3 FGF14
18	spinocerebellar ataxia 13	9.5	KCND3 KCNC1 FGF14
19	episodic ataxia	9.5	KCND3 KCNC1 FGF14
20	familial atrial fibrillation	9.4	LAMA4 KCNIP2 KCND3 KCNC1
21	brugada syndrome	9.4	LAMA4 KCNIP2 KCND3 KCNC1

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

Sources

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	diplopia ³¹	occasional (7.5%)	HP:0000651
12	dysarthria ³¹	occasional (7.5%)	HP:0001260
13	slurred speech ³¹	occasional (7.5%)	HP:0001350
14	ophthalmoplegia ³¹	occasional (7.5%)	HP:0000602
15	broad-based gait ³¹	occasional (7.5%)	HP:0002136
16	cogwheel rigidity ³¹	occasional (7.5%)	HP:0002396
17	poor coordination ³¹	occasional (7.5%)	HP:0002370
18	impaired smooth pursuit ³¹	occasional (7.5%)	HP:0007772

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:

⁴⁶

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

Sources

Drugs & Therapeutics for Spinocerebellar Ataxia Type 19/22

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

Sources

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

Sources

Anatomical Context for Spinocerebellar Ataxia Type 19/22

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

⁴⁰

Eye, Liver, Heart

Sources

Publications for Spinocerebellar Ataxia Type 19/22

Articles related to Spinocerebellar Ataxia Type 19/22:

#	Title	Authors	PMID	Year
1	Mutations in KCND3 cause spinocerebellar ataxia type 22. ⁶	Lee YC...Soong BW	23280837	2012
2	Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. ⁶	Duarri A...Verbeek DS	23280838	2012
3	A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. ⁶	Chung MY...Soong BW	12764052	2003
4	Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. ⁶	Schelhaas HJ...Beemer FA	11284128	2001
5	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
6	Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia. ⁶¹	Ishibashi K...Ishii K	27502082	2016
7	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

Sources

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	PubMed IDs
1	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	552.24	Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	12764052 23280837
2	LAMA4	Laminin Subunit Alpha 4	Protein Coding	7.57	GeneCards inferred via : Variants (show sections)
3	KCNIP2	Potassium Voltage-Gated Channel Interacting Protein 2	Protein Coding	6.65	DISEASES inferred ¹⁵
4	KCNC1	Potassium Voltage-Gated Channel Subfamily C Member 1	Protein Coding	6.24	DISEASES inferred ¹⁵
5	FGF14	Fibroblast Growth Factor 14	Protein Coding	6.22	DISEASES inferred ¹⁵
6	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	5.49	DISEASES inferred ¹⁵

Sources

Variations for Spinocerebellar Ataxia Type 19/22

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

⁶ (show top 50) (show all 79)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KCND3	NM_172198.2(KCND3):c.677_679TCT[1] (p.Phe227del)	Microsatellite	Pathogenic	66061	rs397515475	GRCh37: 1:112524667-112524669 GRCh38: 1:111982045-111982047
2	KCND3	NM_004980.4(KCND3):c.1054A>C (p.Thr352Pro)	SNV	Pathogenic	66062	rs397515476	GRCh37: 1:112524295-112524295 GRCh38: 1:111981673-111981673
3	KCND3	NM_004980.4(KCND3):c.1034G>T (p.Gly345Val)	SNV	Pathogenic	211216	rs797045634	GRCh37: 1:112524315-112524315 GRCh38: 1:111981693-111981693
4	KCND3	NM_004980.4(KCND3):c.1153T>C (p.Ser385Pro)	SNV	Pathogenic	375399	rs1057519453	GRCh37: 1:112329682-112329682 GRCh38: 1:111787060-111787060
5	KCND3	NM_004980.4(KCND3):c.950G>A (p.Cys317Tyr)	SNV	Pathogenic	626316	rs1571939905	GRCh37: 1:112524399-112524399 GRCh38: 1:111981777-111981777
6	KCND3	NM_004980.4(KCND3):c.1013T>A (p.Val338Glu)	SNV	Pathogenic	626317	rs1571939827	GRCh37: 1:112524336-112524336 GRCh38: 1:111981714-111981714
7	KCND3	NM_004980.4(KCND3):c.1123C>T (p.Pro375Ser)	SNV	Pathogenic	626318	rs1571636508	GRCh37: 1:112329712-112329712 GRCh38: 1:111787090-111787090
8	KCND3	NM_004980.4(KCND3):c.1130C>T (p.Thr377Met)	SNV	Pathogenic	626319	rs1571636501	GRCh37: 1:112329705-112329705 GRCh38: 1:111787083-111787083
9	KCND3	NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg)	SNV	Likely pathogenic	383943	rs1057521793	GRCh37: 1:112329724-112329724 GRCh38: 1:111787102-111787102
10	KCND3	NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)	SNV	Likely pathogenic	827788	rs867628133	GRCh37: 1:112524279-112524279 GRCh38: 1:111981657-111981657
11	KCND3	NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)	SNV	Likely pathogenic	976123		GRCh37: 1:112524480-112524480 GRCh38: 1:111981858-111981858
12	KCND3	NM_004980.4(KCND3):c.446A>G (p.Asp149Gly)	SNV	Uncertain significance	447628	rs1217571134	GRCh37: 1:112524903-112524903 GRCh38: 1:111982281-111982281
13	KCND3	NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp)	SNV	Uncertain significance	1004161		GRCh37: 1:112524279-112524279 GRCh38: 1:111981657-111981657
14	KCND3	NM_001378969.1(KCND3):c.930G>A (p.Leu310=)	SNV	Uncertain significance	1004986		GRCh37: 1:112524419-112524419 GRCh38: 1:111981797-111981797
15	KCND3	NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)	SNV	Uncertain significance	1014492		GRCh37: 1:112319814-112319814 GRCh38: 1:111777192-111777192
16	KCND3	NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr)	SNV	Uncertain significance	1017799		GRCh37: 1:112525267-112525267 GRCh38: 1:111982645-111982645
17	KCND3	NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)	SNV	Uncertain significance	1027158		GRCh37: 1:112318721-112318721 GRCh38: 1:111776099-111776099
18	KCND3	NM_001378969.1(KCND3):c.878G>A (p.Arg293His)	SNV	Uncertain significance	1038793		GRCh37: 1:112524471-112524471 GRCh38: 1:111981849-111981849
19	KCND3	NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly)	SNV	Uncertain significance	1041440		GRCh37: 1:112321098-112321098 GRCh38: 1:111778476-111778476
20	KCND3	NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser)	SNV	Uncertain significance	1057886		GRCh37: 1:112318803-112318803 GRCh38: 1:111776181-111776181
21	KCND3	NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile)	SNV	Uncertain significance	1059490		GRCh37: 1:112319780-112319780 GRCh38: 1:111777158-111777158
22	KCND3	NM_004980.4(KCND3):c.91C>T (p.Pro31Ser)	SNV	Uncertain significance	452259	rs1403997481	GRCh37: 1:112525258-112525258 GRCh38: 1:111982636-111982636
23	LAMA4	NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)	SNV	Uncertain significance	488160	rs547323858	GRCh37: 6:112454047-112454047 GRCh38: 6:112132845-112132845
24	KCND3	NM_004980.4(KCND3):c.1709T>C (p.Met570Thr)	SNV	Uncertain significance	465167	rs1553235743	GRCh37: 1:112319705-112319705 GRCh38: 1:111777083-111777083
25	KCND3	NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg)	SNV	Uncertain significance	192254	rs149344567	GRCh37: 1:112318869-112318869 GRCh38: 1:111776247-111776247
26	KCND3	NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln)	SNV	Uncertain significance	837098		GRCh37: 1:112321074-112321074 GRCh38: 1:111778452-111778452
27	KCND3	NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn)	SNV	Uncertain significance	838739		GRCh37: 1:112524901-112524901 GRCh38: 1:111982279-111982279
28	KCND3	NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)	SNV	Uncertain significance	934368		GRCh37: 1:112318707-112318707 GRCh38: 1:111776085-111776085
29	KCND3	NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)	SNV	Uncertain significance	934670		GRCh37: 1:112318778-112318778 GRCh38: 1:111776156-111776156
30	KCND3	NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala)	SNV	Uncertain significance	940586		GRCh37: 1:112524963-112524963 GRCh38: 1:111982341-111982341
31	KCND3	NM_004980.4(KCND3):c.1427A>G (p.His476Arg)	SNV	Uncertain significance	804952	rs1571626155	GRCh37: 1:112322881-112322881 GRCh38: 1:111780259-111780259
32	KCND3	NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser)	SNV	Uncertain significance	954104		GRCh37: 1:112318724-112318724 GRCh38: 1:111776102-111776102
33	KCND3	NM_004980.4(KCND3):c.1292G>A (p.Arg431His)	SNV	Uncertain significance	519484	rs771703569	GRCh37: 1:112323391-112323391 GRCh38: 1:111780769-111780769
34	KCND3	NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)	SNV	Uncertain significance	958292		GRCh37: 1:112322921-112322921 GRCh38: 1:111780299-111780299
35	KCND3	NM_004980.4(KCND3):c.1769G>A (p.Arg590His)	SNV	Uncertain significance	586063	rs186194682	GRCh37: 1:112318898-112318898 GRCh38: 1:111776276-111776276
36	KCND3	NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)	SNV	Uncertain significance	961544		GRCh37: 1:112525003-112525003 GRCh38: 1:111982381-111982381
37	KCND3	NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly)	SNV	Uncertain significance	967961		GRCh37: 1:112525093-112525093 GRCh38: 1:111982471-111982471
38	KCND3	NM_004980.4(KCND3):c.1879G>A (p.Gly627Arg)	SNV	Uncertain significance	647173	rs372362132	GRCh37: 1:112318788-112318788 GRCh38: 1:111776166-111776166
39	KCND3	NM_004980.4(KCND3):c.1756C>G (p.Leu586Val)	SNV	Uncertain significance	519297	rs778053688	GRCh37: 1:112319658-112319658 GRCh38: 1:111777036-111777036
40	KCND3	NM_004980.4(KCND3):c.1784T>G (p.Leu595Trp)	SNV	Uncertain significance	655552	rs1483036958	GRCh37: 1:112318883-112318883 GRCh38: 1:111776261-111776261
41	KCND3	NM_004980.4(KCND3):c.1339A>G (p.Asn447Asp)	SNV	Uncertain significance	663733	rs1571626928	GRCh37: 1:112323344-112323344 GRCh38: 1:111780722-111780722
42	KCND3	NM_004980.4(KCND3):c.257G>A (p.Arg86Gln)	SNV	Uncertain significance	689484	rs1571941606	GRCh37: 1:112525092-112525092 GRCh38: 1:111982470-111982470
43	KCND3	NM_004980.4(KCND3):c.1269+6C>T	SNV	Uncertain significance	408900	rs1060502174	GRCh37: 1:112329560-112329560 GRCh38: 1:111786938-111786938
44	KCND3	NM_172198.2(KCND3):c.1462-1185C>G	SNV	Uncertain significance	570216	rs976664434	GRCh37: 1:112321080-112321080 GRCh38: 1:111778458-111778458
45	KCND3	NM_004980.4(KCND3):c.1646G>A (p.Arg549His)	SNV	Uncertain significance	264530	rs35027371	GRCh37: 1:112319768-112319768 GRCh38: 1:111777146-111777146
46	KCND3	NM_004980.4(KCND3):c.1741A>T (p.Ser581Cys)	SNV	Uncertain significance	577665	rs1420542041	GRCh37: 1:112319673-112319673 GRCh38: 1:111777051-111777051
47	KCND3	NM_004980.4(KCND3):c.1934T>C (p.Ile645Thr)	SNV	Uncertain significance	579054	rs1557929628	GRCh37: 1:112318733-112318733 GRCh38: 1:111776111-111776111
48	KCND3	NM_004980.4(KCND3):c.1174G>A (p.Val392Ile)	SNV	Uncertain significance	192255	rs786205867	GRCh37: 1:112329661-112329661 GRCh38: 1:111787039-111787039
49	KCND3	NM_004980.4(KCND3):c.89C>A (p.Ala30Asp)	SNV	Uncertain significance	465169	rs1307934269	GRCh37: 1:112525260-112525260 GRCh38: 1:111982638-111982638
50	KCND3	NM_004980.4(KCND3):c.1313C>G (p.Ser438Trp)	SNV	Uncertain significance	465164	rs1172444288	GRCh37: 1:112323370-112323370 GRCh38: 1:111780748-111780748

Sources

Expression for Spinocerebellar Ataxia Type 19/22

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

Sources

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	10.95	KCND3 GRM1 FGF14
5	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.7	KCNIP2 KCND3

Sources

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	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:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.65	KCNIP2 KCND3 KCNC1
2	regulation of ion transmembrane transport	GO:0034765	9.5	KCNIP2 KCND3 KCNC1
3	protein homooligomerization	GO:0051260	9.46	KCND3 KCNC1
4	regulation of postsynaptic membrane potential	GO:0060078	9.43	GRM1 FGF14
5	potassium ion transport	GO:0006813	9.43	KCNIP2 KCND3 KCNC1
6	cardiac conduction	GO:0061337	9.4	KCNIP2 KCND3
7	potassium ion export across plasma membrane	GO:0097623	9.37	KCNIP2 KCND3
8	potassium ion transmembrane transport	GO:0071805	9.33	KCNIP2 KCND3 KCNC1
9	membrane repolarization	GO:0086009	8.96	KCNIP2 KCND3
10	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	9.43	KCNIP2 KCND3 KCNC1
2	ion channel binding	GO:0044325	9.37	KCNIP2 KCND3
3	voltage-gated potassium channel activity	GO:0005249	9.32	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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia