SCA35
MCID: SPN266
MIFTS: 39

Spinocerebellar Ataxia 35 (SCA35)

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 35

MalaCards integrated aliases for Spinocerebellar Ataxia 35:

Name: Spinocerebellar Ataxia 35 57 20 72 29 13 6 70
Sca35 57 20 58 72
Spinocerebellar Ataxia Type 35 12 58 15
Ataxia, Spinocerebellar, Type 35 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 35
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

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

Miscellaneous:
slowly progressive
variable age at onset (range teenage to adult years)


HPO:

31
spinocerebellar ataxia 35:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050982
OMIM® 57 613908
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA276193
UMLS 70 C3888031

Summaries for Spinocerebellar Ataxia 35

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 35: 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. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment.

MalaCards based summary : Spinocerebellar Ataxia 35, also known as sca35, is related to autosomal dominant cerebellar ataxia and cerebellar degeneration, and has symptoms including action tremor and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 35 is TGM6 (Transglutaminase 6). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are progressive cerebellar ataxia and hyperreflexia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has material basis in mutation in the TGM6 gene.

OMIM® : 57 Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014). (613908) (Updated 05-Apr-2021)

Related Diseases for Spinocerebellar Ataxia 35

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.5 TGM6 ATN1
2 cerebellar degeneration 10.1
3 early myoclonic encephalopathy 10.1
4 torticollis 10.0
5 ataxia and polyneuropathy, adult-onset 10.0
6 tremor 10.0
7 dermatitis herpetiformis 10.0 TGM6 TGM3
8 peeling skin syndrome 9.9 TGM5 TGM3
9 celiac disease 1 9.9 TGM6 TGM3
10 cerebellar disease 9.8 TGM6 ATN1
11 dentatorubral-pallidoluysian atrophy 9.8 TGM6 ATN1
12 hereditary ataxia 9.7 TGM6 ATN1
13 autosomal recessive congenital ichthyosis 9.7 TGM5 TGM3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 35:



Diseases related to Spinocerebellar Ataxia 35

Symptoms & Phenotypes for Spinocerebellar Ataxia 35

Human phenotypes related to Spinocerebellar Ataxia 35:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
3 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
4 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
5 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
6 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
7 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
8 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
9 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
10 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
11 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
12 pseudobulbar paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007024
13 neck muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000467
14 dysmetric saccades 58 31 occasional (7.5%) Occasional (29-5%) HP:0000641
15 dysarthria 58 31 Frequent (79-30%) HP:0001260
16 nystagmus 58 Excluded (0%)
17 ophthalmoplegia 58 Excluded (0%)
18 peripheral neuropathy 58 Excluded (0%)
19 incoordination 31 HP:0002311
20 abnormality of the orbital region 31 HP:0000315

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
intention tremor
difficulty walking
more
Head And Neck Neck:
torticollis (rare)
neck muscle weakness (rare)

Head And Neck Eyes:
ocular dysmetria
saccadic slowing

Clinical features from OMIM®:

613908 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 35:


action tremor; abnormal pyramidal signs

Drugs & Therapeutics for Spinocerebellar Ataxia 35

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 35

Genetic Tests for Spinocerebellar Ataxia 35

Genetic tests related to Spinocerebellar Ataxia 35:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 35 29 TGM6

Anatomical Context for Spinocerebellar Ataxia 35

MalaCards organs/tissues related to Spinocerebellar Ataxia 35:

40
Eye, Cerebellum, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 35

Articles related to Spinocerebellar Ataxia 35:

(show all 16)
# Title Authors PMID Year
1
Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. 57 6 61
25253745 2014
2
Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. 57 6
22554020 2013
3
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. 57 6
21106500 2010
4
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study. 61
33588035 2021
5
Correction to: Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation. 61
32767197 2021
6
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation. 61
33160304 2020
7
TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35. 61
32426513 2020
8
Diversity and Bioactive Potential of Actinobacteria from Unexplored Regions of Western Ghats, India. 61
32046111 2020
9
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35. 61
30670339 2019
10
Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation. 61
30229425 2019
11
Transglutaminase diseases: from biochemistry to the bedside. 61
30593123 2019
12
Mutations in TGM6 induce the unfolded protein response in SCA35. 61
28934387 2017
13
Inhibition of transglutaminase exacerbates polyglutamine-induced neurotoxicity by increasing the aggregation of mutant ataxin-3 in an SCA3 Drosophila model. 61
25501875 2015
14
Transglutaminase 6 interacts with polyQ proteins and promotes the formation of polyQ aggregates. 61
23800413 2013
15
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. 61
23206699 2013
16
Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases. 61
21743138 2011

Variations for Spinocerebellar Ataxia 35

ClinVar genetic disease variations for Spinocerebellar Ataxia 35:

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGM6 NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) SNV Pathogenic 31086 rs387907098 GRCh37: 20:2381081-2381081
GRCh38: 20:2400435-2400435
2 TGM6 NM_198994.3(TGM6):c.331C>T (p.Arg111Cys) SNV Pathogenic 190253 rs372250159 GRCh37: 20:2375989-2375989
GRCh38: 20:2395343-2395343
3 TGM6 NM_198994.3(TGM6):c.1719_1721AGA[1] (p.Glu574del) Microsatellite Pathogenic 190254 rs793888526 GRCh37: 20:2411131-2411133
GRCh38: 20:2430485-2430487
4 TGM6 NM_198994.3(TGM6):c.851-2A>C SNV Pathogenic 997509 GRCh37: 20:2380950-2380950
GRCh38: 20:2400304-2400304
5 TGM6 NM_198994.3(TGM6):c.1528G>C (p.Asp510His) SNV Pathogenic 42023 rs201964784 GRCh37: 20:2398069-2398069
GRCh38: 20:2417423-2417423
6 TGM6 NM_198994.3(TGM6):c.541C>T (p.Gln181Ter) SNV Pathogenic 1033671 GRCh37: 20:2377268-2377268
GRCh38: 20:2396622-2396622
7 TGM6 NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter) SNV Likely pathogenic 1027361 GRCh37: 20:2384058-2384058
GRCh38: 20:2403412-2403412
8 TGM6 NM_198994.3(TGM6):c.64A>G (p.Thr22Ala) SNV Uncertain significance 1033672 GRCh37: 20:2375154-2375154
GRCh38: 20:2394508-2394508
9 TGM6 NM_198994.3(TGM6):c.1352G>C (p.Arg451Thr) SNV Uncertain significance 493316 rs1265293202 GRCh37: 20:2397893-2397893
GRCh38: 20:2417247-2417247
10 TGM6 NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu) SNV Uncertain significance 898451 GRCh37: 20:2397925-2397925
GRCh38: 20:2417279-2417279
11 TGM6 NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) SNV Uncertain significance 337909 rs202245813 GRCh37: 20:2380261-2380261
GRCh38: 20:2399615-2399615
12 TGM6 NM_198994.3(TGM6):c.816C>T (p.Gly272=) SNV Uncertain significance 337912 rs368599004 GRCh37: 20:2380350-2380350
GRCh38: 20:2399704-2399704
13 TGM6 NM_198994.3(TGM6):c.787A>G (p.Lys263Glu) SNV Uncertain significance 337910 rs886056552 GRCh37: 20:2380321-2380321
GRCh38: 20:2399675-2399675
14 TGM6 NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys) SNV Uncertain significance 337927 rs267605859 GRCh37: 20:2397957-2397957
GRCh38: 20:2417311-2417311
15 TGM6 NM_198994.3(TGM6):c.1501G>A (p.Val501Met) SNV Uncertain significance 337929 rs764377731 GRCh37: 20:2398042-2398042
GRCh38: 20:2417396-2417396
16 TGM6 NM_198994.3(TGM6):c.-5T>A SNV Uncertain significance 337899 rs886056550 GRCh37: 20:2361610-2361610
GRCh38: 20:2380964-2380964
17 TGM6 NM_198994.3(TGM6):c.1678+11G>T SNV Uncertain significance 337935 rs376838053 GRCh37: 20:2398230-2398230
GRCh38: 20:2417584-2417584
18 TGM6 NM_198994.3(TGM6):c.95T>G (p.Val32Gly) SNV Uncertain significance 337903 rs886056551 GRCh37: 20:2375185-2375185
GRCh38: 20:2394539-2394539
19 TGM6 NM_198994.3(TGM6):c.1089T>C (p.Ser363=) SNV Uncertain significance 448664 rs762242728 GRCh37: 20:2384142-2384142
GRCh38: 20:2403496-2403496
20 TGM6 NM_198994.3(TGM6):c.878G>A (p.Arg293Gln) SNV Uncertain significance 895400 GRCh37: 20:2380979-2380979
GRCh38: 20:2400333-2400333
21 TGM6 NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr) SNV Uncertain significance 895401 GRCh37: 20:2381014-2381014
GRCh38: 20:2400368-2400368
22 TGM6 NM_198994.3(TGM6):c.1678+12C>A SNV Uncertain significance 895465 GRCh37: 20:2398231-2398231
GRCh38: 20:2417585-2417585
23 TGM6 NM_198994.3(TGM6):c.181+10C>T SNV Uncertain significance 896738 GRCh37: 20:2375281-2375281
GRCh38: 20:2394635-2394635
24 TGM6 NM_198994.3(TGM6):c.990-6T>C SNV Uncertain significance 896799 GRCh37: 20:2384037-2384037
GRCh38: 20:2403391-2403391
25 TGM6 NM_198994.3(TGM6):c.1093+10A>G SNV Uncertain significance 896800 GRCh37: 20:2384156-2384156
GRCh38: 20:2403510-2403510
26 TGM6 NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser) SNV Uncertain significance 896866 GRCh37: 20:2413233-2413233
GRCh38: 20:2432587-2432587
27 TGM6 NM_198994.3(TGM6):c.543+7A>G SNV Uncertain significance 897211 GRCh37: 20:2377277-2377277
GRCh38: 20:2396631-2396631
28 TGM6 NM_198994.3(TGM6):c.1170C>T (p.Phe390=) SNV Uncertain significance 897277 GRCh37: 20:2384303-2384303
GRCh38: 20:2403657-2403657
29 TGM6 NM_198994.3(TGM6):c.1332G>A (p.Pro444=) SNV Uncertain significance 897279 GRCh37: 20:2384465-2384465
GRCh38: 20:2403819-2403819
30 TGM6 NM_198994.3(TGM6):c.*97T>A SNV Uncertain significance 897366 GRCh37: 20:2413386-2413386
GRCh38: 20:2432740-2432740
31 TGM6 NM_198994.3(TGM6):c.674T>G (p.Val225Gly) SNV Uncertain significance 638499 rs1461093480 GRCh37: 20:2380208-2380208
GRCh38: 20:2399562-2399562
32 TGM6 NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) SNV Uncertain significance 225059 rs144201778 GRCh37: 20:2375205-2375205
GRCh38: 20:2394559-2394559
33 TGM6 NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) SNV Uncertain significance 523569 rs766248910 GRCh37: 20:2375166-2375166
GRCh38: 20:2394520-2394520
34 TGM6 NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) SNV Uncertain significance 31085 rs387907097 GRCh37: 20:2398091-2398091
GRCh38: 20:2417445-2417445
35 TGM6 NM_198994.3(TGM6):c.632G>A (p.Arg211His) SNV Uncertain significance 898387 GRCh37: 20:2378652-2378652
GRCh38: 20:2398006-2398006
36 TGM6 NM_198994.3(TGM6):c.834C>T (p.Ala278=) SNV Uncertain significance 898388 GRCh37: 20:2380368-2380368
GRCh38: 20:2399722-2399722
37 TGM6 NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) SNV Uncertain significance 337913 rs375595045 GRCh37: 20:2380369-2380369
GRCh38: 20:2399723-2399723
38 TGM6 NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu) SNV Likely benign 898452 GRCh37: 20:2398019-2398019
GRCh38: 20:2417373-2417373
39 TGM6 NM_198994.3(TGM6):c.-2A>G SNV Likely benign 337900 rs80329336 GRCh37: 20:2361613-2361613
GRCh38: 20:2380967-2380967
40 TGM6 NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) SNV Likely benign 805665 rs148696208 GRCh37: 20:2378641-2378641
GRCh38: 20:2397995-2397995
41 TGM6 NM_198994.3(TGM6):c.-42C>T SNV Likely benign 898304 GRCh37: 20:2361573-2361573
GRCh38: 20:2380927-2380927
42 TGM6 NM_198994.3(TGM6):c.595G>A (p.Gly199Ser) SNV Likely benign 897212 GRCh37: 20:2378615-2378615
GRCh38: 20:2397969-2397969
43 TGM6 NM_198994.3(TGM6):c.622G>A (p.Val208Met) SNV Likely benign 897213 GRCh37: 20:2378642-2378642
GRCh38: 20:2397996-2397996
44 TGM6 NM_198994.3(TGM6):c.277A>G (p.Met93Val) SNV Likely benign 896739 GRCh37: 20:2375935-2375935
GRCh38: 20:2395289-2395289
45 TGM6 NM_198994.3(TGM6):c.390C>T (p.Gly130=) SNV Likely benign 896740 GRCh37: 20:2376048-2376048
GRCh38: 20:2395402-2395402
46 TGM6 NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) SNV Likely benign 895318 GRCh37: 20:2375128-2375128
GRCh38: 20:2394482-2394482
47 TGM6 NM_198994.3(TGM6):c.850+4C>T SNV Likely benign 895399 GRCh37: 20:2380388-2380388
GRCh38: 20:2399742-2399742
48 TGM6 NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) SNV Likely benign 448675 rs148854519 GRCh37: 20:2376037-2376037
GRCh38: 20:2395391-2395391
49 TGM6 NM_198994.3(TGM6):c.1011G>A (p.Glu337=) SNV Likely benign 448663 rs142832802 GRCh37: 20:2384064-2384064
GRCh38: 20:2403418-2403418
50 TGM6 NM_198994.3(TGM6):c.717G>A (p.Gln239=) SNV Likely benign 337908 rs201506281 GRCh37: 20:2380251-2380251
GRCh38: 20:2399605-2399605

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 35:

72
# Symbol AA change Variation ID SNP ID
1 TGM6 p.Asp327Gly VAR_065360 rs387907098
2 TGM6 p.Leu517Trp VAR_065361 rs387907097
3 TGM6 p.Arg111Cys VAR_072179 rs372250159
4 TGM6 p.Asp510His VAR_072180 rs201964784
5 TGM6 p.Thr426Asn VAR_080737

Expression for Spinocerebellar Ataxia 35

Search GEO for disease gene expression data for Spinocerebellar Ataxia 35.

Pathways for Spinocerebellar Ataxia 35

GO Terms for Spinocerebellar Ataxia 35

Biological processes related to Spinocerebellar Ataxia 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphopantetheinylation GO:0018215 9.26 TGM6 TGM5 TGM3 EPB42
2 cellular protein modification process GO:0006464 9.16 TGM5 TGM3
3 peptide cross-linking GO:0018149 8.92 TGM6 TGM5 TGM3 EPB42

Molecular functions related to Spinocerebellar Ataxia 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.13 TGM6 TGM5 TGM3
2 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.92 TGM6 TGM5 TGM3 EPB42

Sources for Spinocerebellar Ataxia 35

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
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