UP-FTD
MCID: FRN051
MIFTS: 51

Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related (UP-FTD)

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

Aliases & Classifications for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

MalaCards integrated aliases for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

Name: Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 57 73
Primary Progressive Aphasia 76 53 54 29 6 73
Frontotemporal Dementia, Ubiquitin-Positive 57 53 29 6
Aphasia, Primary Progressive 57 53 13
Dementia, Hereditary Dysphasic Disinhibition 57 53
Hddd 57 53
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions, Susceptibility to 6
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions; Ftldu 57
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions 57
Grn-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Tau-Negative Frontotemporal Dementia Linked to Chromosome 17 75
Frontotemporal Dementia with Tdp43 Inclusions, Grn-Related 57
Dementia, Hereditary Dysphasic Disinhibition; Hddd 57
Frontotemporal Dementia, Ubiquitin-Positive; Ftdu 57
Aphasia, Primary Progressive, Susceptibility to 6
Ubiquitin-Positive Frontotemporal Dementia 75
Primary Progressive Aphasia Syndrome 53
Aphasia Primary Progressive 55
Frontotemporal Dementia 73
Ftld-Tdp, Grn-Related 57
Up-Ftd 75
Ftldu 57
Ftdu 57
Ppa 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset about 62 years (45-79 years)
most common subtype of frontotemporal dementia
haploinsufficiency of grn


HPO:

32
frontotemporal lobar degeneration with tdp43 inclusions, grn-related:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

NINDS : 54 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick’s disease, the name and classification of FTD has been a topic of discussion for over a century.  The current designation of the syndrome groups together Pick’s disease, primary progressive aphasia, and semantic dementia as FTD.  Some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to FTD and calling the group Pick Complex.  These designations will continue to be debated.  As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language.  The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation.  The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type’s symptoms.  Spatial skills and memory remain intact.  There is a strong genetic component to the disease; FTD often runs in families.

MalaCards based summary : Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related, also known as primary progressive aphasia, is related to semantic dementia and pick disease of brain, and has symptoms including agitation, restlessness and personality changes. An important gene associated with Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related is GRN (Granulin Precursor), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include brain, testes and cortex, and related phenotypes are dysphasia and hallucinations

Disease Ontology : 12 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.

NIH Rare Diseases : 53 Primary progressive aphasia (PPA) affects a person's ability to use language to communicate. This includes difficulty making or understanding speech (aphasia). PPA is a specific type of a more general disease called frontotemporal dementia. PPA can be classified into three distinct types which include: Progressive non-fluent aphasia (PNFA) Semantic dementia (SD) Logopenic progressive aphasia (LPA) PPA is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. In some cases, this loss of tissue is caused by genetic changes (mutations or pathogenic variants) in the GRN gene. In these cases, the disease is inherited in an autosomal dominant manner. Diagnosis of PPA is suspected when a doctor observes signs and symptoms such as progressive loss of language abilities. Imaging of the brain with a CT scan or MRI can confirm the diagnosis. Although there is no cure for the disease, treatment options include speech therapy and medication to manage behavioral changes.

OMIM : 57 Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; 600274) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD; 104300) or Parkinson disease (PD; 168600), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). (607485)

UniProtKB/Swiss-Prot : 75 Ubiquitin-positive frontotemporal dementia: Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease.

Wikipedia : 76 Primary progressive aphasia (PPA) is a type of neurological syndrome in which language capabilities... more...

Related Diseases for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Diseases related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 semantic dementia 32.8 GRN MAPT RPS27A
2 pick disease of brain 31.9 GRN MAPT RPS27A
3 progressive non-fluent aphasia 31.7 GRN MAPT
4 supranuclear palsy, progressive, 1 31.7 GRN MAPT RPS27A
5 aphasia 30.7 GRN MAPT
6 apraxia 30.5 GRN MAPT
7 corticobasal degeneration 30.4 MAPT RPS27A
8 dementia 30.3 GRN MAPT
9 nominal aphasia 30.1 GRN MAPT
10 frontotemporal dementia 30.0 GRN MAPT RPS27A
11 agraphia 29.8 GRN MAPT
12 ideomotor apraxia 29.6 GRN MAPT
13 logopenic progressive aphasia 12.1
14 grn-related frontotemporal dementia 11.8
15 peripapillary atrophy, beta type 11.0
16 alzheimer disease 10.6
17 frontotemporal dementia with parkinsonism-17 10.5
18 frontal fibrosing alopecia 10.1
19 transient global amnesia 10.0
20 agnosia 10.0
21 dysgraphia 10.0
22 learning disability 10.0
23 depression 10.0
24 hypertensive retinopathy 10.0
25 mutism 10.0
26 amyloidosis 10.0
27 neuronal intranuclear inclusion disease 9.9 MAPT RPS27A
28 behavioral variant of frontotemporal dementia 9.9 GRN MAPT
29 echolalia 9.9 GRN MAPT
30 creutzfeldt-jakob disease 9.9
31 asymptomatic neurosyphilis 9.9
32 conversion disorder 9.9
33 dyslexia 9.9
34 speech disorder 9.9
35 foix chavany marie syndrome 9.9
36 neurosyphilis 9.9
37 cerebral atrophy 9.9
38 primary progressive apraxia of speech 9.9
39 multiple system atrophy 1 9.9 MAPT RPS27A
40 inclusion body myositis 9.8 MAPT RPS27A
41 leukoencephalopathy, hereditary diffuse, with spheroids 9.8 MAPT RPS27A
42 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.8 GRN MAPT
43 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 MAPT RPS27A
44 speech and communication disorders 9.8 GRN MAPT
45 disease of mental health 9.7 GRN MAPT
46 dementia, lewy body 9.7 GRN MAPT RPS27A
47 motor neuron disease 9.7 GRN MAPT RPS27A
48 parkinson disease, late-onset 9.7 MAPT RPS27A
49 amyotrophic lateral sclerosis 1 9.7 GRN MAPT RPS27A

Graphical network of the top 20 diseases related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:



Diseases related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related

Symptoms & Phenotypes for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysphasia
apraxia
progressive language deterioration
frontotemporal dementia
mutism
more
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
agitation
hypersexuality
restlessness
disinhibition
more

Clinical features from OMIM:

607485

Human phenotypes related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 dysphasia 32 HP:0002357
2 hallucinations 32 HP:0000738
3 cerebral cortical atrophy 32 HP:0002120
4 memory impairment 32 HP:0002354
5 aphasia 32 HP:0002381
6 apraxia 32 HP:0002186
7 agitation 32 HP:0000713
8 hypersexuality 32 HP:0030214
9 polyphagia 32 HP:0002591
10 progressive language deterioration 32 HP:0007064
11 parkinsonism 32 HP:0001300
12 neurofibrillary tangles 32 HP:0002185
13 disinhibition 32 HP:0000734
14 apathy 32 HP:0000741
15 personality changes 32 HP:0000751
16 lewy bodies 32 HP:0100315
17 frontotemporal dementia 32 HP:0002145
18 neuronal loss in central nervous system 32 HP:0002529
19 gliosis 32 HP:0002171
20 mutism 32 HP:0002300
21 perseveration 32 HP:0030223
22 hyperorality 32 HP:0000710
23 dilation of lateral ventricles 32 HP:0006956
24 repetitive compulsive behavior 32 HP:0008762

UMLS symptoms related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:


agitation, restlessness, personality changes, memory loss

Drugs & Therapeutics for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Search Clinical Trials , NIH Clinical Center for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related

Genetic Tests for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Genetic tests related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia, Ubiquitin-Positive 29 GRN
2 Primary Progressive Aphasia 29

Anatomical Context for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

MalaCards organs/tissues related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

41
Brain, Testes, Cortex, Temporal Lobe, Eye

Publications for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Articles related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

(show top 50) (show all 503)
# Title Authors Year
1
Sentence composition ability in two patients with non-fluent/agrammatic variant primary progressive aphasia. ( 29409157 )
2018
2
Treatment for Lexical Retrieval Impairments in Primary Progressive Aphasia: A Research Update with Implications for Clinical Practice. ( 29933491 )
2018
3
[18F]AV-1451 tau-PET and primary progressive aphasia. ( 29451323 )
2018
4
Tau Uptake in Agrammatic Primary Progressive Aphasia with and without Apraxia of Speech. ( 29935044 )
2018
5
Episodic and working memory function in Primary Progressive Aphasia: A meta-analysis. ( 29928907 )
2018
6
The Impact of Aphasia Camp Participation on Quality of Life: A Primary Progressive Aphasia Perspective. ( 29933493 )
2018
7
Long-Term maintenance of anomia treatment effects in primary progressive aphasia. ( 29380657 )
2018
8
A Life Participation Approach to Primary Progressive Aphasia Intervention. ( 29933494 )
2018
9
Rate and rhythm control strategies for apraxia of speech in nonfluent primary progressive aphasia. ( 29682238 )
2018
10
Primary progressive aphasia: a clinical approach. ( 29392464 )
2018
11
Molecular neuroimaging in primary progressive aphasia with predominant agraphia. ( 29569990 )
2018
12
Development, Cross-Cultural Adaptation, and Psychometric Characteristics of the Persian Progressive Aphasia Language Scale in Patients With Primary Progressive Aphasia: A Pilot Study. ( 29942438 )
2018
13
Person-Centered Approaches to Communication Participation and Engagement for Individuals with Primary Progressive Aphasia and Dementia. ( 29933486 )
2018
14
Parkinsonism is associated with altered primary motor cortex plasticity in frontotemporal dementia-primary progressive aphasia variant. ( 29909180 )
2018
15
Assessment of Individuals with Primary Progressive Aphasia. ( 29933490 )
2018
16
Distinct [<sup>18</sup>F]THK5351 binding patterns in primary progressive aphasia variants. ( 29946950 )
2018
17
Clustering Analysis of FDG-PET Imaging in Primary Progressive Aphasia. ( 30108500 )
2018
18
Linguistic Aspects of Primary Progressive Aphasia. ( 30112427 )
2018
19
Speech and language therapy for primary progressive aphasia: Referral patterns and barriers to service provision across the UK. ( 30180763 )
2018
20
Clinical, Anatomical, and Pathological Features in the Three Variants of Primary Progressive Aphasia: A Review. ( 30186225 )
2018
21
Treatment for spoken and written word retrieval in the semantic variant of primary progressive aphasia. ( 30198389 )
2018
22
Jargonaphasia: A Systematic Overview and Characterization in Primary Progressive Aphasia. ( 30205389 )
2018
23
Facing the Challenges of Primary Progressive Aphasia: The Spousal Perspective. ( 30208478 )
2018
24
Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia. ( 30255971 )
2018
25
Electrical brain stimulation in different variants of primary progressive aphasia: A randomized clinical trial. ( 30258975 )
2018
26
Structural, Microstructural, and Metabolic Alterations in Primary Progressive Aphasia Variants. ( 30279675 )
2018
27
Parietal Involvement in the Semantic Variant of Primary Progressive Aphasia with Alzheimer's Disease Cerebrospinal Fluid Profile. ( 30282352 )
2018
28
The relationship between response consistency in picture naming and storage impairment in people with semantic variant primary progressive aphasia. ( 30284872 )
2018
29
Role of Positron Emission Tomography as a Biologic Marker in the Diagnosis of Primary Progressive Aphasia: Two Case Reports. ( 30344788 )
2018
30
The 'Better Conversations with Primary Progressive Aphasia (BCPPA)' program for people with PPA (Primary Progressive Aphasia): protocol for a randomised controlled pilot study. ( 30345067 )
2018
31
Screening for Aphasia in NeuroDegeneration for the Diagnosis of Patients with Primary Progressive Aphasia: Clinical Validity and Psychometric Properties. ( 30352431 )
2018
32
The Role of Language Severity and Education in Explaining Performance on Object and Action Naming in Primary Progressive Aphasia. ( 30425638 )
2018
33
Describing Phonological Paraphasias in Three Variants of Primary Progressive Aphasia. ( 29497748 )
2018
34
A Longitudinal Study of a Chinese Man Presenting with Non-Fluent/Agrammatic Variant of Primary Progressive Aphasia. ( 29503630 )
2018
35
Amyloid PET Positivity in Different Primary Progressive Aphasia Phenotypes. ( 29504965 )
2018
36
A case of semantic variant primary progressive aphasia with Pick's pathology. ( 29508660 )
2018
37
Determining stability in connected speech in primary progressive aphasia and Alzheimer's disease. ( 29516757 )
2018
38
Semantic Typicality Effects in Primary Progressive Aphasia. ( 29544341 )
2018
39
Atrophy and microglial distribution in primary progressive aphasia with transactive response DNA-binding protein-43 kDa. ( 29665116 )
2018
40
Prominent microglial activation in cortical white matter is selectively associated with cortical atrophy in primary progressive aphasia. ( 29679378 )
2018
41
A language-based sum score for the course and therapeutic intervention in primary progressive aphasia. ( 29695300 )
2018
42
Retraining speech production and fluency in non-fluent/agrammatic primary progressive aphasia. ( 29718131 )
2018
43
Diagnostic utility of FDG-PET in the differential diagnosis between different forms of primary progressive aphasia. ( 29744573 )
2018
44
The eyes reveal uncertainty about object distinctions in semantic variant primary progressive aphasia. ( 29753915 )
2018
45
"Moon River": Intact Musical Appreciation and Performance in a Man With Semantic Variant Primary Progressive Aphasia. ( 29779573 )
2018
46
Abnormal language-related oscillatory responses in primary progressive aphasia. ( 29845004 )
2018
47
Primary Progressive Aphasia and Stroke Aphasia. ( 29851876 )
2018
48
Amyloid-positive late-onset semantic variant primary progressive aphasia. ( 29987437 )
2018
49
The effect of tDCS on functional connectivity in primary progressive aphasia. ( 30009127 )
2018
50
Single-word comprehension deficits in the nonfluent variant of primary progressive aphasia. ( 30021613 )
2018

Variations for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

75
# Symbol AA change Variation ID SNP ID
1 GRN p.Ala9Asp VAR_044451 rs63751243

ClinVar genetic disease variations for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related:

6 (show top 50) (show all 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh37 Chromosome 20, 4680251: 4680251
2 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh38 Chromosome 20, 4699605: 4699605
3 GRN GRN, IVS0DS, G-C, +5 single nucleotide variant Pathogenic
4 GRN NM_002087.3(GRN): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic rs63750077 GRCh37 Chromosome 17, 42427619: 42427619
5 GRN NM_002087.3(GRN): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic rs63750077 GRCh38 Chromosome 17, 44350251: 44350251
6 GRN NM_002087.3(GRN): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs63751006 GRCh37 Chromosome 17, 42426534: 42426534
7 GRN NM_002087.3(GRN): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs63751006 GRCh38 Chromosome 17, 44349166: 44349166
8 GRN NM_002087.3(GRN): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs63750331 GRCh37 Chromosome 17, 42426535: 42426535
9 GRN NM_002087.3(GRN): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs63750331 GRCh38 Chromosome 17, 44349167: 44349167
10 GRN NM_002087.3(GRN): c.93_96dupCCTG (p.Asp33Profs) duplication Pathogenic rs606231220 GRCh38 Chromosome 17, 44349257: 44349260
11 GRN NM_002087.3(GRN): c.93_96dupCCTG (p.Asp33Profs) duplication Pathogenic rs606231220 GRCh37 Chromosome 17, 42426625: 42426628
12 GRN NM_002087.3(GRN): c.388_391delCAGT (p.Gln130Serfs) deletion Pathogenic rs63749801 GRCh37 Chromosome 17, 42427634: 42427637
13 GRN NM_002087.3(GRN): c.388_391delCAGT (p.Gln130Serfs) deletion Pathogenic rs63749801 GRCh38 Chromosome 17, 44350266: 44350269
14 GRN NM_002087.3(GRN): c.835+1G> A single nucleotide variant Pathogenic rs606231221 GRCh38 Chromosome 17, 44351164: 44351164
15 GRN NM_002087.3(GRN): c.835+1G> A single nucleotide variant Pathogenic rs606231221 GRCh37 Chromosome 17, 42428532: 42428532
16 GRN NM_002087.3(GRN): c.26C> A (p.Ala9Asp) single nucleotide variant Pathogenic rs63751243 GRCh37 Chromosome 17, 42426558: 42426558
17 GRN NM_002087.3(GRN): c.26C> A (p.Ala9Asp) single nucleotide variant Pathogenic rs63751243 GRCh38 Chromosome 17, 44349190: 44349190
18 GRN NM_002087.3(GRN): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs63751294 GRCh37 Chromosome 17, 42429772: 42429772
19 GRN NM_002087.3(GRN): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs63751294 GRCh38 Chromosome 17, 44352404: 44352404
20 GRN GRN, 1-BP DEL, 998G deletion Pathogenic
21 GRN GRN, 1-BP INS, 1145A insertion Pathogenic
22 GRN GRN, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
23 GRN GRN, 2-BP DEL, 675CA deletion Pathogenic
24 GRN GRN, IVS6AS, A-G, -2 single nucleotide variant Pathogenic
25 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh37 Chromosome 17, 42428509: 42428512
26 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh38 Chromosome 17, 44351141: 44351144
27 GRN GRN, 1-BP DEL, 102C deletion Pathogenic
28 GRN GRN, 1-BP DEL, 154A deletion Pathogenic
29 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh37 Chromosome 17, 42430244: 42430244
30 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh38 Chromosome 17, 44352876: 44352876
31 GRN GRN, IVS6AS, G-A, -1 single nucleotide variant Pathogenic
32 GRN NM_002087.3(GRN): c.55C> T (p.Arg19Trp) single nucleotide variant Benign/Likely benign rs63750723 GRCh37 Chromosome 17, 42426587: 42426587
33 GRN NM_002087.3(GRN): c.55C> T (p.Arg19Trp) single nucleotide variant Benign/Likely benign rs63750723 GRCh38 Chromosome 17, 44349219: 44349219
34 GRN NM_002087.3(GRN): c.99C> T (p.Asp33=) single nucleotide variant Benign/Likely benign rs63750742 GRCh37 Chromosome 17, 42426631: 42426631
35 GRN NM_002087.3(GRN): c.99C> T (p.Asp33=) single nucleotide variant Benign/Likely benign rs63750742 GRCh38 Chromosome 17, 44349263: 44349263
36 GRN NM_002087.3(GRN): c.359C> A (p.Ser120Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs63750043 GRCh37 Chromosome 17, 42427605: 42427605
37 GRN NM_002087.3(GRN): c.359C> A (p.Ser120Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs63750043 GRCh38 Chromosome 17, 44350237: 44350237
38 GRN NM_002087.3(GRN): c.709-2A> G single nucleotide variant Pathogenic rs63750548 GRCh37 Chromosome 17, 42428403: 42428403
39 GRN NM_002087.3(GRN): c.709-2A> G single nucleotide variant Pathogenic rs63750548 GRCh38 Chromosome 17, 44351035: 44351035
40 GRN NM_002087.3(GRN): c.836-1G> C single nucleotide variant Pathogenic rs63751296 GRCh37 Chromosome 17, 42428730: 42428730
41 GRN NM_002087.3(GRN): c.836-1G> C single nucleotide variant Pathogenic rs63751296 GRCh38 Chromosome 17, 44351362: 44351362
42 GRN NM_002087.3(GRN): c.933+1G> A single nucleotide variant Likely pathogenic rs63750707 GRCh37 Chromosome 17, 42428829: 42428829
43 GRN NM_002087.3(GRN): c.933+1G> A single nucleotide variant Likely pathogenic rs63750707 GRCh38 Chromosome 17, 44351461: 44351461
44 GRN NM_002087.3(GRN): c.970G> A (p.Ala324Thr) single nucleotide variant Uncertain significance rs63750541 GRCh37 Chromosome 17, 42428954: 42428954
45 GRN NM_002087.3(GRN): c.970G> A (p.Ala324Thr) single nucleotide variant Uncertain significance rs63750541 GRCh38 Chromosome 17, 44351586: 44351586
46 GRN NM_002087.3(GRN): c.1297C> T (p.Arg433Trp) single nucleotide variant Benign/Likely benign rs63750412 GRCh37 Chromosome 17, 42429500: 42429500
47 GRN NM_002087.3(GRN): c.1297C> T (p.Arg433Trp) single nucleotide variant Benign/Likely benign rs63750412 GRCh38 Chromosome 17, 44352132: 44352132
48 GRN NM_002087.3(GRN): c.1544G> C (p.Gly515Ala) single nucleotide variant Benign/Likely benign rs25647 GRCh37 Chromosome 17, 42429839: 42429839
49 GRN NM_002087.3(GRN): c.1544G> C (p.Gly515Ala) single nucleotide variant Benign/Likely benign rs25647 GRCh38 Chromosome 17, 44352471: 44352471
50 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh37 Chromosome 17, 42426926: 42426926

Expression for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Search GEO for disease gene expression data for Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related.

Pathways for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Pathways related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 MAPT RPS27A

GO Terms for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

Molecular functions related to Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.8 GRN MAPT RPS27A

Sources for Frontotemporal Lobar Degeneration with Tdp43 Inclusions,...

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