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

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:



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.

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:



Diseases related to Spinocerebellar Ataxia Type 19/22

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

Drugs & Therapeutics for Spinocerebellar Ataxia Type 19/22

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

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

Anatomical Context for Spinocerebellar Ataxia Type 19/22

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

40
Eye, Liver, Heart

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
23280837 2012
2
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. 6
23280838 2012
3
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. 6
12764052 2003
4
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. 6
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
30776697 2019
6
Relationship between type 1 metabotropic glutamate receptors and cerebellar ataxia. 61
27502082 2016
7
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. 61
25854634 2015

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

Expression for Spinocerebellar Ataxia Type 19/22

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

Pathways for Spinocerebellar Ataxia Type 19/22

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 for Spinocerebellar Ataxia Type 19/22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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