MCID: ATS307
MIFTS: 27

Autosomal Recessive Cerebellar Ataxia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Recessive Cerebellar Ataxia:

Name: Autosomal Recessive Cerebellar Ataxia 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050950

Summaries for Autosomal Recessive Cerebellar Ataxia

Disease Ontology : 12 A hereditary ataxia that has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Cerebellar Ataxia is related to spinocerebellar ataxia, autosomal recessive 10 and aceruloplasminemia. An important gene associated with Autosomal Recessive Cerebellar Ataxia is ANO10 (Anoctamin 10). Affiliated tissues include eye, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Autosomal Recessive Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Syne1-Related Autosomal Recessive Cerebellar Ataxia

Diseases related to Autosomal Recessive Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 10 32.7 ANO10 SYNE1
2 aceruloplasminemia 28.2 ATM COQ8A FXN SETX SPTBN2 SYNE1
3 syne1-related autosomal recessive cerebellar ataxia 12.2
4 autosomal recessive cerebellar ataxia with late-onset spasticity 12.1
5 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.1
6 spinocerebellar ataxia, autosomal recessive 8 12.0
7 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.8
8 coenzyme q10 deficiency, primary, 4 11.3
9 spinocerebellar ataxia, autosomal recessive 14 11.3
10 spinocerebellar ataxia, autosomal recessive 3 11.2
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.1
12 spinocerebellar ataxia, autosomal recessive 4 11.1
13 spinocerebellar ataxia, autosomal recessive 11 11.1
14 spinocerebellar ataxia, autosomal recessive 12 11.1
15 spinocerebellar ataxia, autosomal recessive 15 11.1
16 spinocerebellar ataxia, autosomal recessive 16 11.1
17 spinocerebellar ataxia, autosomal recessive 17 11.1
18 spinocerebellar ataxia, autosomal recessive 23 11.1
19 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.0
20 marinesco-sjogren syndrome 10.9
21 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 10.9
22 spinocerebellar ataxia, autosomal recessive 21 10.9
23 cerebellar ataxia, mental retardation and dysequlibrium syndrome 10.9
24 harding ataxia 10.9
25 ataxia neuropathy spectrum 10.8 MRPL43 TWNK
26 perrault syndrome 5 10.8 MRPL43 TWNK
27 ataxia-oculomotor apraxia 3 10.7
28 mitochondrial dna depletion syndrome 7 10.7 MRPL43 TWNK
29 spinocerebellar ataxia 20 10.6 SNX14 SPTBN2
30 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.6 MRPL43 TWNK
31 spinocerebellar ataxia 8 10.3 SYNE1 TWNK
32 spastic paraplegia 49, autosomal recessive 10.2 SNX14 SPG7
33 ataxia and polyneuropathy, adult-onset 10.2 ATM SETX
34 apraxia 10.2
35 epilepsy 10.1
36 spasticity 10.1
37 multiple sclerosis 9.9
38 ataxia-telangiectasia 9.9
39 alacrima, achalasia, and mental retardation syndrome 9.9
40 spastic ataxia 9.9
41 retinitis 9.9
42 paraplegia 9.9
43 fundus dystrophy 9.9
44 neuropathy 9.9
45 type i 9.9
46 supranuclear ocular palsy 9.9
47 aicardi syndrome 9.9 UBA5 UFM1
48 cerebellar disease 9.9 ATM COQ8A SETX SPTBN2
49 spastic paraplegia 73, autosomal dominant 9.9 GBA2 SPG7 UBA5
50 spastic paraplegia 76, autosomal recessive 9.8 GBA2 SPG7 UBA5

Graphical network of the top 20 diseases related to Autosomal Recessive Cerebellar Ataxia:



Diseases related to Autosomal Recessive Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Recessive Cerebellar Ataxia

GenomeRNAi Phenotypes related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.16 VLDLR
2 Decreased viability GR00221-A-1 10.16 COQ8A FXN
3 Decreased viability GR00221-A-3 10.16 ATM COQ8A
4 Decreased viability GR00221-A-4 10.16 ATM
5 Decreased viability GR00240-S-1 10.16 GBA2
6 Decreased viability GR00301-A 10.16 FXN
7 Decreased viability GR00381-A-1 10.16 UBA5 ANO10 COQ8A GBA2
8 Decreased viability GR00402-S-2 10.16 MRPL43 PMPCA SETX SNX14 SPG7 SPTBN2
9 no effect GR00402-S-1 9.62 SETX SNX14 SPG7 SPTBN2 SYNE1 TDP1

Drugs & Therapeutics for Autosomal Recessive Cerebellar Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Autosomal Recessive Cerebellar Ataxia

Genetic Tests for Autosomal Recessive Cerebellar Ataxia

Anatomical Context for Autosomal Recessive Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Recessive Cerebellar Ataxia:

41
Eye

Publications for Autosomal Recessive Cerebellar Ataxia

Articles related to Autosomal Recessive Cerebellar Ataxia:

(show all 44)
# Title Authors Year
1
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. ( 28558379 )
2017
2
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
3
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub>Deficiency in a Female Sib-Pair. ( 29159460 )
2017
4
A novel frameshift mutation of<i>SYNE1</i>in a Japanese family with autosomal recessive cerebellar ataxia type 8. ( 29081981 )
2017
5
Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing. ( 27644330 )
2016
6
Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation. ( 27045840 )
2016
7
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. ( 26872069 )
2016
8
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. ( 26657514 )
2016
9
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. ( 26657516 )
2016
10
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. ( 26197978 )
2016
11
A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I. ( 25843669 )
2015
12
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply. ( 25664551 )
2015
13
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene. ( 25664549 )
2015
14
Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutations: Delineation and Genotype-Phenotype Correlation Study. ( 25089919 )
2014
15
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. ( 25122145 )
2014
16
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. ( 25439728 )
2014
17
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. ( 24719489 )
2014
18
Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia. ( 24312598 )
2013
19
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. ( 23332917 )
2013
20
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families. ( 24102492 )
2013
21
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. ( 23857099 )
2013
22
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. ( 24218524 )
2013
23
SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia. ( 23959263 )
2013
24
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. ( 24369382 )
2013
25
Autosomal recessive cerebellar ataxias with oculomotor apraxia. ( 21827898 )
2012
26
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. ( 22008874 )
2012
27
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. ( 21576695 )
2011
28
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. ( 21392394 )
2011
29
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. ( 21092923 )
2010
30
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). ( 19332571 )
2009
31
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. ( 18405395 )
2008
32
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. ( 17503513 )
2007
33
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. ( 17159980 )
2007
34
[Autosomal recessive cerebellar ataxias with oculomotor apraxia]. ( 16518257 )
2006
35
Autosomal recessive cerebellar ataxias. ( 17112370 )
2006
36
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. ( 15642921 )
2005
37
[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]. ( 16193447 )
2005
38
New autosomal recessive cerebellar ataxias with oculomotor apraxia. ( 16131425 )
2005
39
A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11. ( 15996219 )
2005
40
Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy. ( 11860984 )
2002
41
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. ( 11391656 )
2001
42
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. ( 10751248 )
2000
43
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. ( 11022012 )
2000
44
SYNE1-Related Autosomal Recessive Cerebellar Ataxia ( 20301553 )
1993

Variations for Autosomal Recessive Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Recessive Cerebellar Ataxia:

6
(show top 50) (show all 386)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh37 Chromosome 10, 102749139: 102749139
2 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh38 Chromosome 10, 100989382: 100989382
3 COQ8A NM_020247.4(COQ8A): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs76249490 GRCh37 Chromosome 1, 227152761: 227152761
4 COQ8A NM_020247.4(COQ8A): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs76249490 GRCh38 Chromosome 1, 226965060: 226965060
5 COQ8A NM_020247.4(COQ8A): c.697G> A (p.Ala233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376462712 GRCh37 Chromosome 1, 227165191: 227165191
6 COQ8A NM_020247.4(COQ8A): c.697G> A (p.Ala233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376462712 GRCh38 Chromosome 1, 226977490: 226977490
7 COQ8A NM_020247.4(COQ8A): c.1914C> T (p.Ser638=) single nucleotide variant Benign/Likely benign rs56043893 GRCh37 Chromosome 1, 227174408: 227174408
8 COQ8A NM_020247.4(COQ8A): c.1914C> T (p.Ser638=) single nucleotide variant Benign/Likely benign rs56043893 GRCh38 Chromosome 1, 226986707: 226986707
9 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh38 Chromosome 10, 100990973: 100990973
10 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh37 Chromosome 10, 102750730: 102750730
11 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh38 Chromosome 10, 100993430: 100993430
12 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh37 Chromosome 10, 102753187: 102753187
13 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh38 Chromosome 10, 100993500: 100993500
14 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh37 Chromosome 10, 102753257: 102753257
15 ANO10 NM_018075.4(ANO10): c.1293+9A> G single nucleotide variant Benign rs7616708 GRCh37 Chromosome 3, 43607136: 43607136
16 ANO10 NM_018075.4(ANO10): c.1293+9A> G single nucleotide variant Benign rs7616708 GRCh38 Chromosome 3, 43565644: 43565644
17 TWNK NM_021830.4(TWNK): c.2050A> C (p.Lys684Gln) single nucleotide variant Likely benign rs369223258 GRCh37 Chromosome 10, 102753262: 102753262
18 TWNK NM_021830.4(TWNK): c.2050A> C (p.Lys684Gln) single nucleotide variant Likely benign rs369223258 GRCh38 Chromosome 10, 100993505: 100993505
19 TWNK NM_021830.4(TWNK): c.384C> T (p.Ser128=) single nucleotide variant Uncertain significance rs148234280 GRCh37 Chromosome 10, 102748351: 102748351
20 TWNK NM_021830.4(TWNK): c.384C> T (p.Ser128=) single nucleotide variant Uncertain significance rs148234280 GRCh38 Chromosome 10, 100988594: 100988594
21 COQ8A NM_020247.4(COQ8A): c.427G> A (p.Gly143Arg) single nucleotide variant Uncertain significance rs760566419 GRCh38 Chromosome 1, 226965249: 226965249
22 COQ8A NM_020247.4(COQ8A): c.427G> A (p.Gly143Arg) single nucleotide variant Uncertain significance rs760566419 GRCh37 Chromosome 1, 227152950: 227152950
23 COQ8A NM_020247.4(COQ8A): c.719A> C (p.Glu240Ala) single nucleotide variant Uncertain significance rs886046065 GRCh38 Chromosome 1, 226977512: 226977512
24 COQ8A NM_020247.4(COQ8A): c.719A> C (p.Glu240Ala) single nucleotide variant Uncertain significance rs886046065 GRCh37 Chromosome 1, 227165213: 227165213
25 COQ8A NM_020247.4(COQ8A): c.1060G> A (p.Glu354Lys) single nucleotide variant Uncertain significance rs886046066 GRCh38 Chromosome 1, 226983014: 226983014
26 COQ8A NM_020247.4(COQ8A): c.1060G> A (p.Glu354Lys) single nucleotide variant Uncertain significance rs886046066 GRCh37 Chromosome 1, 227170715: 227170715
27 COQ8A NM_020247.4(COQ8A): c.1258G> A (p.Asp420Asn) single nucleotide variant Uncertain significance rs147097934 GRCh37 Chromosome 1, 227171796: 227171796
28 COQ8A NM_020247.4(COQ8A): c.1258G> A (p.Asp420Asn) single nucleotide variant Uncertain significance rs147097934 GRCh38 Chromosome 1, 226984095: 226984095
29 COQ8A NM_020247.4(COQ8A): c.1713C> A (p.Ala571=) single nucleotide variant Uncertain significance rs886046069 GRCh37 Chromosome 1, 227174207: 227174207
30 COQ8A NM_020247.4(COQ8A): c.1713C> A (p.Ala571=) single nucleotide variant Uncertain significance rs886046069 GRCh38 Chromosome 1, 226986506: 226986506
31 COQ8A NM_020247.4(COQ8A): c.*184G> C single nucleotide variant Uncertain significance rs548257684 GRCh37 Chromosome 1, 227174622: 227174622
32 COQ8A NM_020247.4(COQ8A): c.*184G> C single nucleotide variant Uncertain significance rs548257684 GRCh38 Chromosome 1, 226986921: 226986921
33 COQ8A NM_020247.4(COQ8A): c.*570T> C single nucleotide variant Uncertain significance rs778729725 GRCh38 Chromosome 1, 226987307: 226987307
34 COQ8A NM_020247.4(COQ8A): c.*570T> C single nucleotide variant Uncertain significance rs778729725 GRCh37 Chromosome 1, 227175008: 227175008
35 COQ8A NM_020247.4(COQ8A): c.*693G> T single nucleotide variant Uncertain significance rs886046074 GRCh38 Chromosome 1, 226987430: 226987430
36 COQ8A NM_020247.4(COQ8A): c.*693G> T single nucleotide variant Uncertain significance rs886046074 GRCh37 Chromosome 1, 227175131: 227175131
37 COQ8A NM_020247.4(COQ8A): c.*790A> G single nucleotide variant Likely benign rs12565212 GRCh38 Chromosome 1, 226987527: 226987527
38 COQ8A NM_020247.4(COQ8A): c.*790A> G single nucleotide variant Likely benign rs12565212 GRCh37 Chromosome 1, 227175228: 227175228
39 COQ8A NM_020247.4(COQ8A): c.-137C> A single nucleotide variant Uncertain significance rs557786445 GRCh38 Chromosome 1, 226940272: 226940272
40 COQ8A NM_020247.4(COQ8A): c.-137C> A single nucleotide variant Uncertain significance rs557786445 GRCh37 Chromosome 1, 227127973: 227127973
41 COQ8A NM_020247.4(COQ8A): c.358G> A (p.Val120Met) single nucleotide variant Uncertain significance rs376347405 GRCh38 Chromosome 1, 226965180: 226965180
42 COQ8A NM_020247.4(COQ8A): c.358G> A (p.Val120Met) single nucleotide variant Uncertain significance rs376347405 GRCh37 Chromosome 1, 227152881: 227152881
43 COQ8A NM_020247.4(COQ8A): c.521C> A (p.Thr174Lys) single nucleotide variant Uncertain significance rs181579601 GRCh38 Chromosome 1, 226965343: 226965343
44 COQ8A NM_020247.4(COQ8A): c.521C> A (p.Thr174Lys) single nucleotide variant Uncertain significance rs181579601 GRCh37 Chromosome 1, 227153044: 227153044
45 COQ8A NM_020247.4(COQ8A): c.687G> A (p.Leu229=) single nucleotide variant Uncertain significance rs752409331 GRCh38 Chromosome 1, 226977480: 226977480
46 COQ8A NM_020247.4(COQ8A): c.687G> A (p.Leu229=) single nucleotide variant Uncertain significance rs752409331 GRCh37 Chromosome 1, 227165181: 227165181
47 COQ8A NM_020247.4(COQ8A): c.811C> T (p.Arg271Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145034527 GRCh38 Chromosome 1, 226982107: 226982107
48 COQ8A NM_020247.4(COQ8A): c.811C> T (p.Arg271Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145034527 GRCh37 Chromosome 1, 227169808: 227169808
49 COQ8A NM_020247.4(COQ8A): c.1660-9T> C single nucleotide variant Benign rs7552783 GRCh37 Chromosome 1, 227174145: 227174145
50 COQ8A NM_020247.4(COQ8A): c.1660-9T> C single nucleotide variant Benign rs7552783 GRCh38 Chromosome 1, 226986444: 226986444

Expression for Autosomal Recessive Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Cerebellar Ataxia.

Pathways for Autosomal Recessive Cerebellar Ataxia

GO Terms for Autosomal Recessive Cerebellar Ataxia

Biological processes related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.33 FXN SPG7 TWNK
2 mitochondrial calcium ion transmembrane transport GO:0006851 9.32 PMPCA SPG7
3 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.26 UBA5 UFM1
4 protein K69-linked ufmylation GO:1990592 8.96 UBA5 UFM1
5 protein ufmylation GO:0071569 8.62 UBA5 UFM1

Molecular functions related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA helicase activity GO:0003678 8.62 SETX TWNK

Sources for Autosomal Recessive Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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