SCA36
MCID: SPN265
MIFTS: 42

Spinocerebellar Ataxia 36 (SCA36)

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 36

MalaCards integrated aliases for Spinocerebellar Ataxia 36:

Name: Spinocerebellar Ataxia 36 57 20 43 72 29 13 6 70
Sca36 57 20 43 58 72
Spinocerebellar Ataxia Type 36 12 43 58 15
Ataxia, Spinocerebellar, Type 36 39
Costa De Morte Ataxia 43
Asidan Ataxia 43
Asidan 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 36
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset of cerebellar ataxia is 52.8 years
patients with longer disease duration show motor neuron involvement
described in families from western japan
described in families from galicia, spain
unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats


HPO:

31
spinocerebellar ataxia 36:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 36

MedlinePlus Genetics : 43 Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.Some people with SCA36 have abnormalities of the eye muscles, which can lead to involuntary eye movements (nystagmus), rapid eye movements (saccades), trouble moving the eyes side-to-side (oculomotor apraxia), and droopy eyelids (ptosis). Sensorineural hearing loss, which is hearing loss caused by changes in the inner ear, may also occur in people with SCA36.Brain imaging of people with SCA36 shows progressive atrophy of various parts of the brain, particularly within the cerebellum, which is the area of the brain involved in coordinating movements. Over time, the loss of cells in the cerebellum causes the movement problems characteristic of SCA36. In older affected individuals, the frontal lobes of the brain may show atrophy resulting in loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies.Signs and symptoms of SCA36 typically begin in a person's forties or fifties but can appear anytime during adulthood. People with SCA36 have a normal lifespan and are usually mobile for 15 to 20 years after they are diagnosed.

MalaCards based summary : Spinocerebellar Ataxia 36, also known as sca36, is related to fragile x-associated tremor/ataxia syndrome and hereditary ataxia, and has symptoms including gait ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 36 is NOP56 (NOP56 Ribonucleoprotein), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include tongue, eye and brain, and related phenotypes are dysarthria and hearing impairment

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has material basis in mutation in the NOP56 gene.

OMIM® : 57 SCA36 is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (614153) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 36: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA36 is characterized by complicated clinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and lower extremities.

Related Diseases for Spinocerebellar Ataxia 36

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 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 fragile x-associated tremor/ataxia syndrome 29.6 NOP56 C9orf72 ATXN8OS ATXN2 ATXN10
2 hereditary ataxia 29.6 NOP56 BEAN1 ATXN8OS ATXN2 ATXN10
3 cerebellar disease 29.6 NOP56 C9orf72 ATXN8OS ATXN2 ATXN10
4 autosomal dominant cerebellar ataxia 29.5 TK2 NOP56 DAB1 C9orf72 BEAN1 ATXN8OS
5 spinocerebellar ataxia 10 29.2 NOP56 DAB1 C9orf72 BEAN1 ATXN8OS ATXN2
6 ataxia and polyneuropathy, adult-onset 10.4
7 olivopontocerebellar atrophy 10.2
8 cerebellar ataxia type 9 10.2 DAB1 ATXN10
9 epilepsy, familial adult myoclonic, 2 10.2 DAB1 ATXN8OS
10 progressive muscular atrophy 10.2 C9orf72 ATXN2
11 sensorineural hearing loss 10.2
12 amyotrophic lateral sclerosis 4, juvenile 10.2 C9orf72 ATXN2
13 amyotrophic lateral sclerosis type 6 10.1 C9orf72 ATXN2
14 spinocerebellar ataxia 1 10.1 ATXN8OS ATXN2 ATXN10
15 myotonic disease 10.1 C9orf72 ATXN8OS ATXN10
16 multisystem proteinopathy 10.1 C9orf72 ATXN2
17 spinal and bulbar muscular atrophy, x-linked 1 10.1 C9orf72 ATXN2 ATXN10
18 spinocerebellar ataxia 2 10.1 C9orf72 ATXN8OS ATXN2
19 spinocerebellar ataxia 6 10.1 ATXN8OS ATXN2 ATXN10
20 spinocerebellar ataxia 30 10.1 TK2 NOP56 ATXN10
21 spinocerebellar ataxia 12 10.1 ATXN8OS ATXN2
22 ptosis 10.1
23 hereditary spastic paraplegia 10.1
24 paraplegia 10.1
25 machado-joseph disease 10.1 ATXN8OS ATXN2 ATXN10
26 dermatopathia pigmentosa reticularis 10.0 SUPT4H1 C9orf72
27 friedreich ataxia 10.0 ATXN8OS ATXN2 ATXN10
28 x-linked hereditary ataxia 10.0 NOP56 C9orf72 ATXN8OS ATXN10
29 adolescence-adult electroclinical syndrome 10.0 DAB1 CSTB
30 huntington disease-like 2 10.0 NOP56 C9orf72 ATXN8OS ATXN10
31 amyotrophic lateral sclerosis 1 10.0
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
33 cervical dystonia 10.0
34 lateral sclerosis 10.0
35 dystonia 10.0
36 pathologic nystagmus 10.0
37 dysphagia 10.0
38 myotonic dystrophy 2 10.0 NOP56 C9orf72 ATXN8OS ATXN10
39 spinocerebellar ataxia 37 10.0 NOP56 DAB1 ATXN8OS ATXN10
40 epilepsy with generalized tonic-clonic seizures 10.0 TK2 CSTB
41 frontotemporal dementia 10.0
42 motor neuron disease 10.0
43 spinocerebellar ataxia 17 10.0 ATXN8OS ATXN2
44 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.0 NOP56 C9orf72 ATXN2 ATXN10
45 choreatic disease 9.9 CSTB C9orf72 ATXN2
46 spinocerebellar ataxia 7 9.9 ATXN8OS ATXN2
47 supranuclear palsy, progressive, 1 9.9
48 parkinsonism 9.9
49 liposarcoma 9.9
50 spinocerebellar ataxia 8 9.9 NOP56 C9orf72 ATXN8OS ATXN2 ATXN10

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 36:



Diseases related to Spinocerebellar Ataxia 36

Symptoms & Phenotypes for Spinocerebellar Ataxia 36

Human phenotypes related to Spinocerebellar Ataxia 36:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 very rare (1%) Very frequent (99-80%) HP:0001260
2 hearing impairment 58 31 very rare (1%) Very frequent (99-80%) HP:0000365
3 limb ataxia 58 31 very rare (1%) Very frequent (99-80%) HP:0002070
4 truncal ataxia 58 31 very rare (1%) Very frequent (99-80%) HP:0002078
5 skeletal muscle atrophy 58 31 very rare (1%) Frequent (79-30%) HP:0003202
6 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
9 blurred vision 58 31 frequent (33%) Frequent (79-30%) HP:0000622
10 slow saccadic eye movements 58 31 very rare (1%) Frequent (79-30%) HP:0000514
11 tongue fasciculations 58 31 very rare (1%) Frequent (79-30%) HP:0001308
12 tongue atrophy 58 31 very rare (1%) Frequent (79-30%) HP:0012473
13 loss of purkinje cells in the cerebellar vermis 58 31 frequent (33%) Frequent (79-30%) HP:0007001
14 hyperreflexia 58 31 very rare (1%) Occasional (29-5%) HP:0001347
15 ptosis 58 31 very rare (1%) Occasional (29-5%) HP:0000508
16 diplopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000651
17 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
18 bowel incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0002607
19 attention deficit hyperactivity disorder 58 31 very rare (1%) Very rare (<4-1%) HP:0007018
20 vertigo 58 31 very rare (1%) Very rare (<4-1%) HP:0002321
21 migraine 58 31 very rare (1%) Very rare (<4-1%) HP:0002076
22 head tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002346
23 intention tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002080
24 hand tremor 58 31 very rare (1%) Very rare (<4-1%) HP:0002378
25 limb myoclonus 58 31 very rare (1%) Very rare (<4-1%) HP:0045084
26 nystagmus 31 very rare (1%) HP:0000639
27 muscle weakness 31 very rare (1%) HP:0001324
28 hypertonia 31 very rare (1%) HP:0001276
29 cerebellar atrophy 31 very rare (1%) HP:0001272
30 vertical supranuclear gaze palsy 31 very rare (1%) HP:0000511
31 hypotonia 31 very rare (1%) HP:0001252
32 ataxia 58 Very frequent (99-80%)
33 fasciculations 58 Frequent (79-30%)
34 gait ataxia 31 HP:0002066
35 incoordination 31 HP:0002311
36 emg: neuropathic changes 31 HP:0003445
37 impaired smooth pursuit 31 HP:0007772

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
gait ataxia
cerebellar atrophy
limb ataxia
more
Head And Neck Eyes:
impaired smooth pursuit
slow saccades
horizontal gaze nystagmus
gaze limitation

Muscle Soft Tissue:
distal skeletal muscle atrophy (after long disease duration)
chronic denervation seen on skeletal muscle biopsy

Head And Neck Mouth:
tongue fasciculations
tongue atrophy

Head And Neck Ears:
hearing loss, progressive (in some patients)

Clinical features from OMIM®:

614153 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 36:


gait ataxia; cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 36

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 36

Genetic Tests for Spinocerebellar Ataxia 36

Genetic tests related to Spinocerebellar Ataxia 36:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 36 29 NOP56

Anatomical Context for Spinocerebellar Ataxia 36

MalaCards organs/tissues related to Spinocerebellar Ataxia 36:

40
Tongue, Eye, Brain, Cerebellum, Spinal Cord, Skeletal Muscle

Publications for Spinocerebellar Ataxia 36

Articles related to Spinocerebellar Ataxia 36:

(show all 37)
# Title Authors PMID Year
1
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. 6 61 57
22492559 2012
2
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. 61 57 6
21683323 2011
3
Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan). 57 61
22744658 2012
4
Porphyrins ameliorate spinocerebellar ataxia type 36 GGCCTG repeat expansion-mediated cytotoxicity. 61
33705846 2021
5
Repeat sizes of NOP56 gene in a Japanese Asidan (SCA36) family with clinical anticipation. 61
32980141 2020
6
Genetic analysis of the first SCA36 family showing clinical anticipation. 61
33032830 2020
7
Clinical anticipation of disease onset in a Japanese Asidan (SCA36) family. 61
32707372 2020
8
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data. 61
32407596 2020
9
Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36). 61
32270466 2020
10
It Takes Two to Tango: DPRs in ALS and SCA36. 61
32702342 2020
11
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. 61
32375063 2020
12
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo. 61
32375043 2020
13
Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population. 61
31737797 2019
14
Screening for spinocerebellar ataxia type 36 (SCA36) in the Greek population. 61
31132534 2019
15
Suppression of the yeast elongation factor Spt4 ortholog reduces expanded SCA36 GGCCUG repeat aggregation and cytotoxicity. 61
30610877 2019
16
Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases. 61
29281254 2018
17
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. 61
29316893 2018
18
An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA). 61
29207981 2017
19
Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs. 61
28918022 2017
20
Prevalence of spinocerebellar ataxia 36 in a US population. 61
28761930 2017
21
Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia». 61
25593102 2017
22
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36. 61
27862279 2017
23
Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China. 61
26661328 2016
24
Spinocerebellar ataxia type 36 in the Han Chinese. 61
27123487 2016
25
[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36]. 61
26663071 2015
26
Spinocerebellar ataxia 36 accompanied by cervical dystonia. 61
26189053 2015
27
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. 61
25476002 2015
28
Characteristic RNA foci of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan). 61
24985895 2014
29
Spinocerebellar Ataxia Type 36 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
25101480 2014
30
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. 61
23975261 2013
31
Oromandibular dystonia associated with SCA36. 61
23390045 2013
32
Assessment of swallowing in motor neuron disease and Asidan/SCA36 patients with new methods. 61
23146615 2013
33
Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36. 61
23140984 2013
34
[Spinocerebellar ataxia type 36 (nicknamed Asidan)]. 61
22868885 2012
35
The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients. 61
22753339 2012
36
Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan. 61
22353375 2012
37
GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36. 61
22744663 2012

Variations for Spinocerebellar Ataxia 36

ClinVar genetic disease variations for Spinocerebellar Ataxia 36:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC109504727 , NOP56 NM_006392.3(NOP56):c.3+71_3+75[(16_?)] Microsatellite Pathogenic 31106 rs1555779353 GRCh37: 20:2633380-2633385
GRCh38: 20:2652734-2652739
2 LOC109504727 , NOP56 NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)] Microsatellite Pathogenic 126457 GRCh37: 20:2633380-2633385
GRCh38: 20:2652734-2652739
3 NOP56 NM_006392.4(NOP56):c.1777G>T (p.Glu593Ter) SNV Pathogenic 998209 GRCh37: 20:2638932-2638932
GRCh38: 20:2658286-2658286
4 NOP56 NM_006392.4(NOP56):c.1475A>G (p.Gln492Arg) SNV Uncertain significance 1030104 GRCh37: 20:2638630-2638630
GRCh38: 20:2657984-2657984
5 LOC109504727 , NOP56 NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14) Microsatellite Benign 126458 GRCh37: 20:2633380-2633385
GRCh38: 20:2652734-2652739

Expression for Spinocerebellar Ataxia 36

Search GEO for disease gene expression data for Spinocerebellar Ataxia 36.

Pathways for Spinocerebellar Ataxia 36

Pathways related to Spinocerebellar Ataxia 36 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.26 NOP56 DAB1 BEAN1 ATXN8OS ATXN2 ATXN10

GO Terms for Spinocerebellar Ataxia 36

Cellular components related to Spinocerebellar Ataxia 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 AMPA glutamate receptor complex GO:0032281 8.62 VWC2L VWC2

Biological processes related to Spinocerebellar Ataxia 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress granule assembly GO:0034063 8.96 C9orf72 ATXN2
2 positive regulation of neuron differentiation GO:0045666 8.8 VWC2L VWC2 DAB1

Sources for Spinocerebellar Ataxia 36

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....