FTDALS2
MCID: FRN040
MIFTS: 37

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 (FTDALS2)

Categories: Bone diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 57 12 72 29 6 70
Ftdals2 57 12 72
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-2 12 15
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis, Type 2 39

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
two unrelated families have been reported (last curated july 2014)
late-adult onset (usually after age 50 years)


HPO:

31
frontotemporal dementia and/or amyotrophic lateral sclerosis 2:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

UniProtKB/Swiss-Prot : 72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2, also known as ftdals2, is related to amyotrophic lateral sclerosis 19 and amyotrophic lateral sclerosis type 15, and has symptoms including cerebellar ataxia An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 is CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10), and among its related pathways/superpathways is Pathways of neurodegeneration - multiple diseases. Affiliated tissues include spinal cord and temporal lobe, and related phenotypes are ptosis and sensorineural hearing impairment

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

More information from OMIM: 615911 PS105400 PS105550

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5

Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 19 10.1 PRPH MATR3
2 amyotrophic lateral sclerosis type 15 10.1 PRPH C9orf72
3 amyotrophic lateral sclerosis 20 10.1 PRPH MATR3
4 gerstmann-straussler disease 9.9 PRPH MGRN1
5 amyotrophic lateral sclerosis 18 9.9 PRPH FUS
6 associative agnosia 9.9 FUS C9orf72
7 ideomotor apraxia 9.9 FUS C9orf72
8 amyotrophic lateral sclerosis 16, juvenile 9.9 PRPH FUS
9 nominal aphasia 9.9 FUS C9orf72
10 aphasia 9.9 FUS C9orf72
11 pica disease 9.9 FUS C9orf72
12 dysgraphia 9.9 FUS C9orf72
13 writing disorder 9.8 FUS C9orf72
14 progressive bulbar palsy 9.8 FUS C9orf72
15 alzheimer disease 7 9.8 FUS C9orf72
16 spinal muscular atrophy, distal, autosomal recessive, 4 9.8 FUS C9orf72
17 progressive muscular atrophy 9.8 FUS C9orf72
18 amyotrophic lateral sclerosis 8 9.8 FUS C9orf72
19 amyotrophic lateral sclerosis 4, juvenile 9.8 FUS C9orf72
20 dermatopathia pigmentosa reticularis 9.8 FUS C9orf72
21 fragile x-associated tremor/ataxia syndrome 9.7 FUS C9orf72
22 frontotemporal dementia 9.7 FUS CHCHD10 C9orf72
23 dementia 9.7 FUS CHCHD10 C9orf72
24 amyotrophic lateral sclerosis 21 9.7 PRPH MATR3 FUS
25 spinal and bulbar muscular atrophy, x-linked 1 9.7 FUS C9orf72
26 muscular atrophy 9.7 FUS CHCHD10 C9orf72
27 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.7 FUS C9orf72
28 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.7 MATR3 FUS C9orf72
29 amyotrophic lateral sclerosis type 6 9.7 MATR3 FUS C9orf72
30 multisystem proteinopathy 9.7 MATR3 FUS C9orf72
31 spinocerebellar ataxia 2 9.7 MATR3 FUS C9orf72
32 supranuclear palsy, progressive, 1 9.6 FUS C9orf72
33 motor neuron disease 9.6 FUS CHCHD10 C9orf72
34 essential tremor 9.5 FUS C9orf72
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 9.5 VPS54 PRPH MGRN1 BNIP1
36 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.5 MATR3 FUS CHCHD10 C9orf72
37 spinal muscular atrophy 9.5 MATR3 FUS CHCHD10 C9orf72
38 lateral sclerosis 9.3 PRPH MATR3 FUS CHCHD10 C9orf72
39 amyotrophic lateral sclerosis type 22 9.1 VPS54 PRPH MGRN1 FUS C9orf72
40 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 8.8 VPS54 PRPH MGRN1 FUS C9orf72 BNIP1
41 amyotrophic lateral sclerosis 1 8.7 VPS54 PRPH MGRN1 MATR3 FUS CHCHD10

Graphical network of the top 20 diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:



Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
3 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
4 proximal muscle weakness 31 occasional (7.5%) HP:0003701
5 parkinsonism 31 occasional (7.5%) HP:0001300
6 ataxia 31 HP:0001251
7 dysarthria 31 HP:0001260
8 dysphagia 31 HP:0002015
9 areflexia 31 HP:0001284
10 hyporeflexia 31 HP:0001265
11 babinski sign 31 HP:0003487
12 frontal lobe dementia 31 HP:0000727
13 bulbar palsy 31 HP:0001283
14 frontotemporal dementia 31 HP:0002145
15 amyotrophic lateral sclerosis 31 HP:0007354

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
frontal lobe dementia
cerebellar ataxia
motor neuron disease
extensor plantar responses
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Muscle Soft Tissue:
mitochondrial dna deletions
proximal muscle weakness (in some patients)
cytochrome c oxidase deficiency
ragged red fibers seen on biopsy
lipid and glycogen accumulation
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Ears:
sensorineural deafness (in some patients)

Head And Neck Eyes:
ptosis (uncommon)

Clinical features from OMIM®:

615911 (Updated 05-Apr-2021)

UMLS symptoms related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:


cerebellar ataxia

MGI Mouse Phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 C9orf72 CHCHD10 MATR3 MGRN1 PRPH VPS54

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Search Clinical Trials , NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 29 CHCHD10

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

40
Spinal Cord, Temporal Lobe

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Articles related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

(show all 14)
# Title Authors PMID Year
1
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. 6 57
24934289 2014
2
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? 6
30014597 2018
3
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS. 6
29789341 2018
4
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency. 6
29315381 2018
5
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS. 6
29121267 2018
6
In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions. 6
29112723 2018
7
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity. 6
28585542 2017
8
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain. 6
26152333 2015
9
Mutation analysis of CHCHD10 in different neurodegenerative diseases. 6
25833818 2015
10
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. 6
25681414 2015
11
CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. 6
25576308 2015
12
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. 6
25155093 2014
13
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. 6
25113787 2014
14
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. 6
25261972 2014

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHCHD10 NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) SNV Pathogenic 180220 rs730880030 GRCh37: 22:24109778-24109778
GRCh38: 22:23767591-23767591
2 CHCHD10 NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) SNV Pathogenic 204291 rs551521196 GRCh37: 22:24109722-24109722
GRCh38: 22:23767535-23767535
3 CHCHD10 NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) SNV Pathogenic 204292 rs775332895 GRCh37: 22:24109583-24109583
GRCh38: 22:23767396-23767396
4 CHCHD10 NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) SNV Pathogenic 180220 rs730880030 GRCh37: 22:24109778-24109778
GRCh38: 22:23767591-23767591
5 CHCHD10 NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) SNV Likely pathogenic 140745 rs587777574 GRCh37: 22:24109646-24109646
GRCh38: 22:23767459-23767459
6 overlap with 2 genes NC_000022.11:g.(?_23765824)_(23767603_?)del Deletion Uncertain significance 831034 GRCh37: 22:24108011-24109790
GRCh38:
7 CHCHD10 NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) SNV Uncertain significance 473421 rs542541060 GRCh37: 22:24109608-24109608
GRCh38: 22:23767421-23767421
8 CHCHD10 NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) SNV Uncertain significance 655998 rs374211312 GRCh37: 22:24109626-24109626
GRCh38: 22:23767439-23767439
9 CHCHD10 NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) SNV Uncertain significance 855585 GRCh37: 22:24110054-24110054
GRCh38: 22:23767867-23767867
10 CHCHD10 NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) SNV Uncertain significance 857529 GRCh37: 22:24110046-24110046
GRCh38: 22:23767859-23767859
11 CHCHD10 NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) SNV Uncertain significance 933489 GRCh37: 22:24109752-24109752
GRCh38: 22:23767565-23767565
12 CHCHD10 NC_000022.10:g.(?_24108174)_(24110081_?)dup Duplication Uncertain significance 473419 GRCh37: 22:24108174-24110081
GRCh38: 22:23765987-23767894
13 CHCHD10 NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) SNV Uncertain significance 540611 rs374353973 GRCh37: 22:24108450-24108450
GRCh38: 22:23766263-23766263
14 CHCHD10 NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) SNV Uncertain significance 540612 rs1438034155 GRCh37: 22:24108397-24108397
GRCh38: 22:23766210-23766210
15 CHCHD10 NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) SNV Uncertain significance 1036655 GRCh37: 22:24108461-24108461
GRCh38: 22:23766274-23766274
16 CHCHD10 NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) SNV Uncertain significance 1040911 GRCh37: 22:24109767-24109767
GRCh38: 22:23767580-23767580
17 CHCHD10 NC_000022.10:g.(?_24109541)_(24110081_?)del Deletion Uncertain significance 1043025 GRCh37: 22:24109541-24110081
GRCh38:
18 CHCHD10 NM_213720.3(CHCHD10):c.42-2A>G SNV Uncertain significance 1043375 GRCh37: 22:24109782-24109782
GRCh38: 22:23767595-23767595
19 CHCHD10 NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) SNV Uncertain significance 565755 rs9153 GRCh37: 22:24108412-24108412
GRCh38: 22:23766225-23766225
20 CHCHD10 NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) SNV Uncertain significance 567906 rs1252496774 GRCh37: 22:24108448-24108448
GRCh38: 22:23766261-23766261
21 CHCHD10 NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) SNV Uncertain significance 570385 rs951686050 GRCh37: 22:24110031-24110031
GRCh38: 22:23767844-23767844
22 CHCHD10 NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) SNV Uncertain significance 572533 rs730880031 GRCh37: 22:24109625-24109625
GRCh38: 22:23767438-23767438
23 CHCHD10 NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) SNV Uncertain significance 573913 rs781304084 GRCh37: 22:24109632-24109632
GRCh38: 22:23767445-23767445
24 CHCHD10 NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) SNV Uncertain significance 640224 rs1601354726 GRCh37: 22:24108347-24108347
GRCh38: 22:23766160-23766160
25 CHCHD10 NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) SNV Uncertain significance 640736 rs767069606 GRCh37: 22:24109598-24109598
GRCh38: 22:23767411-23767411
26 CHCHD10 NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) SNV Uncertain significance 648284 rs1197865297 GRCh37: 22:24108213-24108213
GRCh38: 22:23766026-23766026
27 CHCHD10 NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) SNV Uncertain significance 652408 rs750293377 GRCh37: 22:24108392-24108392
GRCh38: 22:23766205-23766205
28 CHCHD10 NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) SNV Uncertain significance 652563 rs542541060 GRCh37: 22:24109608-24109608
GRCh38: 22:23767421-23767421
29 CHCHD10 NC_000022.11:g.(?_23767364)_(23767982_?)del Deletion Uncertain significance 654106 GRCh37: 22:24109551-24110169
GRCh38: 22:23767364-23767982
30 CHCHD10 NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) SNV Uncertain significance 655645 rs1447212146 GRCh37: 22:24109780-24109780
GRCh38: 22:23767593-23767593
31 overlap with 2 genes NC_000022.10:g.(?_24108011)_(24110169_?)dup Duplication Uncertain significance 665651 GRCh37: 22:24108011-24110169
GRCh38: 22:23765824-23767982
32 CHCHD10 NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) SNV Uncertain significance 1000426 GRCh37: 22:24110060-24110060
GRCh38: 22:23767873-23767873
33 CHCHD10 NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) SNV Uncertain significance 1003466 GRCh37: 22:24110054-24110054
GRCh38: 22:23767867-23767867
34 overlap with 2 genes NC_000022.10:g.(?_24108011)_(24110169_?)dup Duplication Uncertain significance 1008641 GRCh37: 22:24108011-24110169
GRCh38:
35 CHCHD10 NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) SNV Uncertain significance 569761 rs9153 GRCh37: 22:24108412-24108412
GRCh38: 22:23766225-23766225
36 CHCHD10 NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) SNV Uncertain significance 836327 GRCh37: 22:24108342-24108342
GRCh38: 22:23766155-23766155
37 CHCHD10 NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) SNV Uncertain significance 844201 GRCh37: 22:24109622-24109622
GRCh38: 22:23767435-23767435
38 CHCHD10 NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) SNV Uncertain significance 851626 GRCh37: 22:24109778-24109778
GRCh38: 22:23767591-23767591
39 CHCHD10 NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu) SNV Uncertain significance 951138 GRCh37: 22:24108370-24108370
GRCh38: 22:23766183-23766183
40 CHCHD10 NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys) SNV Uncertain significance 1021740 GRCh37: 22:24109587-24109587
GRCh38: 22:23767400-23767400
41 CHCHD10 NM_213720.3(CHCHD10):c.409+1G>A SNV Uncertain significance 1026524 GRCh37: 22:24108314-24108314
GRCh38: 22:23766127-23766127
42 CHCHD10 NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) SNV Uncertain significance 473426 rs931085449 GRCh37: 22:24108375-24108375
GRCh38: 22:23766188-23766188
43 CHCHD10 NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) SNV Uncertain significance 568579 rs1569149526 GRCh37: 22:24108338-24108338
GRCh38: 22:23766151-23766151
44 CHCHD10 NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) SNV Uncertain significance 655109 rs1287389347 GRCh37: 22:24109671-24109671
GRCh38: 22:23767484-23767484
45 CHCHD10 NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) SNV Uncertain significance 940618 GRCh37: 22:24108462-24108462
GRCh38: 22:23766275-23766275
46 CHCHD10 NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) SNV Uncertain significance 941430 GRCh37: 22:24109619-24109619
GRCh38: 22:23767432-23767432
47 CHCHD10 NM_213720.3(CHCHD10):c.410-3C>T SNV Uncertain significance 968488 GRCh37: 22:24108216-24108216
GRCh38: 22:23766029-23766029
48 CHCHD10 NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) SNV Likely benign 705839 rs370872556 GRCh37: 22:24109593-24109593
GRCh38: 22:23767406-23767406
49 CHCHD10 NM_213720.3(CHCHD10):c.410-8del Deletion Likely benign 763752 rs759453467 GRCh37: 22:24108221-24108221
GRCh38: 22:23766034-23766034
50 CHCHD10 NM_213720.3(CHCHD10):c.273C>T (p.Pro91=) SNV Likely benign 776092 rs773772416 GRCh37: 22:24108451-24108451
GRCh38: 22:23766264-23766264

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2:

72
# Symbol AA change Variation ID SNP ID
1 CHCHD10 p.Pro34Ser VAR_071805 rs551521196
2 CHCHD10 p.Ser59Leu VAR_071806 rs587777574

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Pathways related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 PRPH MATR3 FUS CHCHD10 C9orf72

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

Cellular components related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perikaryon GO:0043204 8.8 PRPH FUS C9orf72

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2

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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