HMN7B
MCID: NRN040
MIFTS: 46

Neuronopathy, Distal Hereditary Motor, Type Viib (HMN7B)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuronopathy, Distal Hereditary Motor, Type Viib

MalaCards integrated aliases for Neuronopathy, Distal Hereditary Motor, Type Viib:

Name: Neuronopathy, Distal Hereditary Motor, Type Viib 57 70
Distal Hereditary Motor Neuronopathy Type 7b 12 29 6 15
Hmn Viib 57 12 72
Dhmn7b 57 12 72
Hmn7b 57 12 72
Neuropathy, Distal Hereditary Motor, Type Viib 57 13
Distal Hereditary Motor Neuropathy Type Viib 12 72
Neuropathy, Distal Hereditary Motor, with Vocal Cord Paralysis, Type Viib 57
Distal Hereditary Motor Neuropathy with Vocal Cord Paralysis Type Viib 72
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis Type 7b 12
Neuropathy, Motor, Distal, Hereditary, Type Viib 39
Lower Motor Neuron Disease, Dynactin Type 57
Neuronopathy, Distal Hereditary Motor, 7b 72
Lower Motor Neuron Disease Dynactin Type 72
Progressive Lower Motor Neuron Disease 72
Harper-Young Myopathy 12
Plmnd 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in early adulthood


HPO:

31
neuronopathy, distal hereditary motor, type viib:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111202
OMIM® 57 607641
MeSH 44 D009134
MedGen 41 C1843315
UMLS 70 C1843315

Summaries for Neuronopathy, Distal Hereditary Motor, Type Viib

UniProtKB/Swiss-Prot : 72 Neuronopathy, distal hereditary motor, 7B: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

MalaCards based summary : Neuronopathy, Distal Hereditary Motor, Type Viib, also known as distal hereditary motor neuronopathy type 7b, is related to perry syndrome and lateral sclerosis, and has symptoms including facial paresis An important gene associated with Neuronopathy, Distal Hereditary Motor, Type Viib is DCTN1 (Dynactin Subunit 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Vesicle-mediated transport. Affiliated tissues include spinal cord, and related phenotypes are facial palsy and vocal cord paralysis

Disease Ontology : 12 A distal hereditary motor neuropathy type 7 that has material basis in heterozygous mutation in DCTN1 on 2p13.1.

More information from OMIM: 607641

Related Diseases for Neuronopathy, Distal Hereditary Motor, Type Viib

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic
Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Iid
Neuronopathy, Distal Hereditary Motor, Type Ix Neuronopathy, Distal Hereditary Motor, Type Vc
Autosomal Recessive Distal Hereditary Motor Neuronopathy Distal Hereditary Motor Neuronopathy Type 7
Distal Hereditary Motor Neuronopathy Type 2

Diseases related to Neuronopathy, Distal Hereditary Motor, Type Viib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 perry syndrome 30.9 TARDBP MAPRE3 DCTN2 DCTN1 CLIP1
2 lateral sclerosis 29.7 TARDBP KIF5A DCTN1 ALS2
3 amyotrophic lateral sclerosis 1 29.5 TBCE TARDBP DYNC1H1 DCTN1 ALS2
4 motor neuron disease 29.5 TARDBP SH3TC2 DYNC1H1 DCTN1 ALS2
5 neuronopathy, distal hereditary motor, type viia 11.5
6 spinal muscular atrophy, jokela type 11.2
7 spinal muscular atrophy with lower extremity predominance 10.2 PAFAH1B1 DYNC1H1
8 amyotrophic lateral sclerosis 19 10.1 TARDBP ALS2
9 amyotrophic lateral sclerosis 11 10.1 TARDBP ALS2
10 neuronal migration disorders 10.1 PAFAH1B1 DYNC1H1
11 myositis 10.1
12 granulomatous myositis 10.1
13 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.1 TARDBP ALS2
14 ophthalmomyiasis 10.1 TARDBP DYNC1H1
15 amyotrophic lateral sclerosis type 12 10.1 TARDBP ALS2
16 spinal muscular atrophy, distal, autosomal recessive, 4 10.0 TARDBP DCTN1 ALS2
17 amyotrophic lateral sclerosis 8 10.0 TARDBP ALS2
18 amyotrophic lateral sclerosis 4, juvenile 10.0 TARDBP ALS2
19 spastic paraplegia 57, autosomal recessive 10.0 KIF5A ALS2
20 amyotrophic lateral sclerosis type 6 10.0 TARDBP ALS2
21 genetic motor neuron disease 10.0 SH3TC2 DCTN1
22 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.0 TARDBP KIF5A
23 neuropathy, hereditary sensory and autonomic, type ic 10.0 SH3TC2 DCTN1
24 charcot-marie-tooth disease, axonal, type 2k 9.9 KIF5A DYNC1H1
25 band heterotopia 9.9 PAFAH1B1 NDEL1 DYNC1H1
26 charcot-marie-tooth disease, dominant intermediate e 9.9 SH3TC2 DYNC1H1
27 periventricular nodular heterotopia 9.9 PAFAH1B1 NDEL1 DYNC1H1
28 autosomal dominant distal hereditary motor neuronopathy 9.9 SH3TC2 DCTN1
29 spastic paraplegia 4, autosomal dominant 9.8 KIF5A ALS2
30 schizophrenia 1 9.8 PAFAH1B1 NDEL1
31 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.7 TARDBP KIF5A DCTN1 ALS2
32 lissencephaly 9.5 PAFAH1B1 NDEL1 DYNC1H1 DCTN1 CLIP1
33 charcot-marie-tooth disease, axonal, type 2e 9.5 SH3TC2 KIF5A DCTN1 ALS2
34 motor peripheral neuropathy 9.5 SH3TC2 KIF5A DYNC1H1 DCTN1
35 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.4 SH3TC2 KIF5A DYNC1H1 DCTN1
36 spinal muscular atrophy 9.4 TBCE TARDBP SH3TC2 DYNC1H1
37 muscular atrophy 9.3 TBCE TARDBP SH3TC2 DYNC1H1 DCTN1
38 neuromuscular disease 9.1 TARDBP SH3TC2 KIF5A DYNC1H1 DCTN1 ALS2
39 charcot-marie-tooth disease 9.0 SNPH SH3TC2 KIF5A DYNC1H1 DCTN2 DCTN1
40 distal hereditary motor neuronopathy type 7 8.7 TARDBP SNPH PAFAH1B1 NDEL1 MAPRE3 DYNC1H1

Graphical network of the top 20 diseases related to Neuronopathy, Distal Hereditary Motor, Type Viib:



Diseases related to Neuronopathy, Distal Hereditary Motor, Type Viib

Symptoms & Phenotypes for Neuronopathy, Distal Hereditary Motor, Type Viib

Human phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Viib:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 vocal cord paralysis 31 HP:0001605
3 distal muscle weakness 31 HP:0002460
4 distal amyotrophy 31 HP:0003693
5 hand muscle weakness 31 HP:0030237
6 lower limb muscle weakness 31 HP:0007340
7 hand muscle atrophy 31 HP:0009130
8 abnormal lower motor neuron morphology 31 HP:0002366

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hand muscle weakness
hand muscle atrophy
facial weakness
breathing difficulty due to vocal cord paralysis
lower motor neuron disease
more
Respiratory Larynx:
breathing difficulty due to vocal cord paralysis

Clinical features from OMIM®:

607641 (Updated 20-May-2021)

UMLS symptoms related to Neuronopathy, Distal Hereditary Motor, Type Viib:


facial paresis

MGI Mouse Phenotypes related to Neuronopathy, Distal Hereditary Motor, Type Viib:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ALS2 DCTN1 DYNC1H1 KIF5A PAFAH1B1 SH3TC2
2 mortality/aging MP:0010768 9.85 ALS2 DCTN1 DCTN2 DYNC1H1 KIF5A NDEL1
3 muscle MP:0005369 9.43 ALS2 DCTN1 DYNC1H1 SH3TC2 TARDBP TBCE
4 nervous system MP:0003631 9.32 ALS2 DCTN1 DYNC1H1 KIF5A NDEL1 PAFAH1B1

Drugs & Therapeutics for Neuronopathy, Distal Hereditary Motor, Type Viib

Search Clinical Trials , NIH Clinical Center for Neuronopathy, Distal Hereditary Motor, Type Viib

Genetic Tests for Neuronopathy, Distal Hereditary Motor, Type Viib

Genetic tests related to Neuronopathy, Distal Hereditary Motor, Type Viib:

# Genetic test Affiliating Genes
1 Distal Hereditary Motor Neuronopathy Type 7b 29 DCTN1

Anatomical Context for Neuronopathy, Distal Hereditary Motor, Type Viib

MalaCards organs/tissues related to Neuronopathy, Distal Hereditary Motor, Type Viib:

40
Spinal Cord

Publications for Neuronopathy, Distal Hereditary Motor, Type Viib

Articles related to Neuronopathy, Distal Hereditary Motor, Type Viib:

(show all 14)
# Title Authors PMID Year
1
Mutant dynactin in motor neuron disease. 57 6
12627231 2003
2
Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 6
27573046 2016
3
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 6
23143281 2013
4
Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 6
19279216 2009
5
Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 6
18364389 2008
6
The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 6
18094236 2007
7
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 6
16505168 2006
8
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 57
15326253 2004
9
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. 6
12062019 2002
10
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. 61
31760949 2019
11
p150glued deficiency impairs effective fusion between autophagosomes and lysosomes due to their redistribution to the cell periphery. 61
30366015 2019
12
Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy. 61
28789478 2017
13
P150glued-associated disorders are caused by activation of intrinsic apoptotic pathway. 61
24722468 2014
14
The CAP-Gly of p150: one domain, two diseases, and a function at the end. 61
22542174 2012

Variations for Neuronopathy, Distal Hereditary Motor, Type Viib

ClinVar genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Viib:

6 (show top 50) (show all 414)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
2 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
3 DCTN1 NM_004082.4(DCTN1):c.557C>T (p.Pro186Leu) SNV Uncertain significance 391470 rs916359967 GRCh37: 2:74598752-74598752
GRCh38: 2:74371625-74371625
4 DCTN1 NM_001135040.2(DCTN1):c.394-1207G>A SNV Uncertain significance 565725 rs149447433 GRCh37: 2:74600062-74600062
GRCh38: 2:74372935-74372935
5 DCTN1 NM_004082.4(DCTN1):c.279+1G>T SNV Uncertain significance 565763 rs1393363759 GRCh37: 2:74605126-74605126
GRCh38: 2:74377999-74377999
6 DCTN1 NM_004082.4(DCTN1):c.2290G>A (p.Val764Ile) SNV Uncertain significance 565854 rs753618444 GRCh37: 2:74594198-74594198
GRCh38: 2:74367071-74367071
7 DCTN1 NM_004082.4(DCTN1):c.629T>G (p.Leu210Arg) SNV Uncertain significance 566375 rs1558943273 GRCh37: 2:74598680-74598680
GRCh38: 2:74371553-74371553
8 DCTN1 NM_004082.4(DCTN1):c.2909A>G (p.Asn970Ser) SNV Uncertain significance 566389 rs568812456 GRCh37: 2:74592762-74592762
GRCh38: 2:74365635-74365635
9 DCTN1 NM_004082.4(DCTN1):c.823C>T (p.Arg275Cys) SNV Uncertain significance 567626 rs775294408 GRCh37: 2:74598126-74598126
GRCh38: 2:74370999-74370999
10 DCTN1 NM_004082.4(DCTN1):c.1997C>T (p.Thr666Met) SNV Uncertain significance 567916 rs143914684 GRCh37: 2:74595116-74595116
GRCh38: 2:74367989-74367989
11 DCTN1 NM_004082.4(DCTN1):c.2633A>G (p.Tyr878Cys) SNV Uncertain significance 568956 rs778201974 GRCh37: 2:74593498-74593498
GRCh38: 2:74366371-74366371
12 DCTN1 NM_004082.4(DCTN1):c.1217G>A (p.Arg406Lys) SNV Uncertain significance 536144 rs1040712616 GRCh37: 2:74597383-74597383
GRCh38: 2:74370256-74370256
13 DCTN1 NM_004082.4(DCTN1):c.2480T>C (p.Leu827Pro) SNV Uncertain significance 536145 rs1470946965 GRCh37: 2:74593734-74593734
GRCh38: 2:74366607-74366607
14 DCTN1 NM_004082.4(DCTN1):c.3652A>G (p.Thr1218Ala) SNV Uncertain significance 536146 rs886070472 GRCh37: 2:74589226-74589226
GRCh38: 2:74362099-74362099
15 DCTN1 NM_004082.4(DCTN1):c.3017G>A (p.Arg1006Gln) SNV Uncertain significance 536147 rs752882353 GRCh37: 2:74592654-74592654
GRCh38: 2:74365527-74365527
16 DCTN1 NM_004082.4(DCTN1):c.2477C>T (p.Thr826Met) SNV Uncertain significance 536148 rs766585070 GRCh37: 2:74593737-74593737
GRCh38: 2:74366610-74366610
17 DCTN1 NM_001135040.2(DCTN1):c.3137-199G>T SNV Uncertain significance 536149 rs376996779 GRCh37: 2:74590753-74590753
GRCh38: 2:74363626-74363626
18 DCTN1 NM_004082.4(DCTN1):c.1255G>A (p.Ala419Thr) SNV Uncertain significance 536150 rs922032527 GRCh37: 2:74597345-74597345
GRCh38: 2:74370218-74370218
19 DCTN1 NM_004082.4(DCTN1):c.3254G>A (p.Gly1085Glu) SNV Uncertain significance 536151 rs1274754432 GRCh37: 2:74590512-74590512
GRCh38: 2:74363385-74363385
20 DCTN1 NM_004082.4(DCTN1):c.1102G>A (p.Ala368Thr) SNV Uncertain significance 536152 rs1034996844 GRCh37: 2:74597618-74597618
GRCh38: 2:74370491-74370491
21 DCTN1 NM_004082.4(DCTN1):c.3127C>T (p.Arg1043Cys) SNV Uncertain significance 536153 rs140066692 GRCh37: 2:74592271-74592271
GRCh38: 2:74365144-74365144
22 DCTN1 NM_004082.4(DCTN1):c.3241G>A (p.Val1081Met) SNV Uncertain significance 536154 rs764028925 GRCh37: 2:74590525-74590525
GRCh38: 2:74363398-74363398
23 DCTN1 NM_004082.4(DCTN1):c.3803A>G (p.Gln1268Arg) SNV Uncertain significance 536155 rs751431467 GRCh37: 2:74588660-74588660
GRCh38: 2:74361533-74361533
24 DCTN1 NM_004082.4(DCTN1):c.673C>T (p.Arg225Trp) SNV Uncertain significance 453052 rs371723224 GRCh37: 2:74598276-74598276
GRCh38: 2:74371149-74371149
25 DCTN1 NM_004082.4(DCTN1):c.1706T>A (p.Ile569Asn) SNV Uncertain significance 536156 rs1553464828 GRCh37: 2:74596003-74596003
GRCh38: 2:74368876-74368876
26 DCTN1 NM_004082.4(DCTN1):c.1784G>A (p.Ser595Asn) SNV Uncertain significance 536157 rs1243051229 GRCh37: 2:74595925-74595925
GRCh38: 2:74368798-74368798
27 DCTN1 NM_004082.4(DCTN1):c.3449G>A (p.Arg1150His) SNV Uncertain significance 536158 rs771822061 GRCh37: 2:74590201-74590201
GRCh38: 2:74363074-74363074
28 DCTN1 NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) SNV Uncertain significance 8404 rs121909344 GRCh37: 2:74594023-74594023
GRCh38: 2:74366896-74366896
29 DCTN1 NM_004082.4(DCTN1):c.1752C>A (p.His584Gln) SNV Uncertain significance 536159 rs1345909454 GRCh37: 2:74595957-74595957
GRCh38: 2:74368830-74368830
30 DCTN1 NM_004082.4(DCTN1):c.442C>T (p.Arg148Trp) SNV Uncertain significance 447238 rs148810193 GRCh37: 2:74600066-74600066
GRCh38: 2:74372939-74372939
31 DCTN1 NM_004082.4(DCTN1):c.843+5G>T SNV Uncertain significance 447240 rs757238618 GRCh37: 2:74598101-74598101
GRCh38: 2:74370974-74370974
32 DCTN1 NM_004082.4(DCTN1):c.3128G>A (p.Arg1043His) SNV Uncertain significance 425206 rs776489779 GRCh37: 2:74592270-74592270
GRCh38: 2:74365143-74365143
33 DCTN1 NM_004082.4(DCTN1):c.559G>T (p.Ala187Ser) SNV Uncertain significance 536161 rs960727301 GRCh37: 2:74598750-74598750
GRCh38: 2:74371623-74371623
34 DCTN1 NM_004082.4(DCTN1):c.2005C>T (p.Arg669Cys) SNV Uncertain significance 536162 rs150746209 GRCh37: 2:74595108-74595108
GRCh38: 2:74367981-74367981
35 DCTN1 NM_001135040.2(DCTN1):c.394-2600C>T SNV Uncertain significance 536163 rs781290307 GRCh37: 2:74601455-74601455
GRCh38: 2:74374328-74374328
36 DCTN1 NM_004082.4(DCTN1):c.1288-6A>G SNV Uncertain significance 536164 rs1236101222 GRCh37: 2:74597202-74597202
GRCh38: 2:74370075-74370075
37 DCTN1 NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys) SNV Uncertain significance 834539 GRCh37: 2:74604801-74604801
GRCh38: 2:74377674-74377674
38 DCTN1 NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu) SNV Uncertain significance 835939 GRCh37: 2:74588713-74588713
GRCh38: 2:74361586-74361586
39 DCTN1 NM_004082.4(DCTN1):c.100G>C (p.Glu34Gln) SNV Uncertain significance 808781 rs151052060 GRCh37: 2:74605306-74605306
GRCh38: 2:74378179-74378179
40 DCTN1 NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly) SNV Uncertain significance 836640 GRCh37: 2:74597341-74597341
GRCh38: 2:74370214-74370214
41 DCTN1 NM_004082.5(DCTN1):c.2795G>A (p.Arg932His) SNV Uncertain significance 839578 GRCh37: 2:74593111-74593111
GRCh38: 2:74365984-74365984
42 DCTN1 NM_004082.5(DCTN1):c.414+6G>A SNV Uncertain significance 840193 GRCh37: 2:74603863-74603863
GRCh38: 2:74376736-74376736
43 DCTN1 NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr) SNV Uncertain significance 841138 GRCh37: 2:74598114-74598114
GRCh38: 2:74370987-74370987
44 DCTN1 NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) SNV Uncertain significance 843850 GRCh37: 2:74596507-74596507
GRCh38: 2:74369380-74369380
45 DCTN1 NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln) SNV Uncertain significance 844212 GRCh37: 2:74597374-74597374
GRCh38: 2:74370247-74370247
46 DCTN1 NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys) SNV Uncertain significance 844403 GRCh37: 2:74589238-74589238
GRCh38: 2:74362111-74362111
47 DCTN1 NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn) SNV Uncertain significance 844946 GRCh37: 2:74598770-74598770
GRCh38: 2:74371643-74371643
48 DCTN1 NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr) SNV Uncertain significance 845556 GRCh37: 2:74596438-74596438
GRCh38: 2:74369311-74369311
49 DCTN1 NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu) SNV Uncertain significance 847069 GRCh37: 2:74598677-74598677
GRCh38: 2:74371550-74371550
50 DCTN1 NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) SNV Uncertain significance 848831 GRCh37: 2:74593445-74593445
GRCh38: 2:74366318-74366318

UniProtKB/Swiss-Prot genetic disease variations for Neuronopathy, Distal Hereditary Motor, Type Viib:

72
# Symbol AA change Variation ID SNP ID
1 DCTN1 p.Gly59Ser VAR_015850 rs121909342

Expression for Neuronopathy, Distal Hereditary Motor, Type Viib

Search GEO for disease gene expression data for Neuronopathy, Distal Hereditary Motor, Type Viib.

Pathways for Neuronopathy, Distal Hereditary Motor, Type Viib

GO Terms for Neuronopathy, Distal Hereditary Motor, Type Viib

Cellular components related to Neuronopathy, Distal Hereditary Motor, Type Viib according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.29 TBCE TARDBP SNPH PAFAH1B1 NDEL1 MAPRE3
2 neuron projection GO:0043005 9.92 SNPH PAFAH1B1 KIF5A DCTN1 ALS2
3 neuronal cell body GO:0043025 9.89 SNPH PAFAH1B1 KIF5A DCTN1 ALS2
4 microtubule organizing center GO:0005815 9.88 PAFAH1B1 NDEL1 MAPRE3 DCTN2 DCTN1
5 axon GO:0030424 9.87 PAFAH1B1 NDEL1 DCTN1 ALS2
6 microtubule cytoskeleton GO:0015630 9.84 PAFAH1B1 MAPRE3 DCTN1 CLIP1
7 spindle GO:0005819 9.78 PAFAH1B1 NDEL1 DCTN1
8 nuclear envelope GO:0005635 9.77 PAFAH1B1 NDEL1 DCTN1
9 vesicle GO:0031982 9.77 PAFAH1B1 DCTN2 ALS2
10 cell cortex GO:0005938 9.76 PAFAH1B1 DYNC1H1 DCTN1
11 growth cone GO:0030426 9.75 PAFAH1B1 DCTN2 ALS2
12 kinesin complex GO:0005871 9.72 PAFAH1B1 NDEL1 KIF5A
13 centrosome GO:0005813 9.7 PAFAH1B1 NDEL1 DYNC1H1 DCTN2 DCTN1 CLIP1
14 axon cytoplasm GO:1904115 9.67 PAFAH1B1 NDEL1 KIF5A DYNC1H1
15 kinetochore GO:0000776 9.65 PAFAH1B1 NDEL1 DCTN2 DCTN1 CLIP1
16 dynein complex GO:0030286 9.63 DYNC1H1 DCTN2 DCTN1
17 cytoplasmic microtubule GO:0005881 9.62 SNPH PAFAH1B1 MAPRE3 DYNC1H1
18 microtubule associated complex GO:0005875 9.61 PAFAH1B1 NDEL1 DCTN1
19 cytoskeleton GO:0005856 9.61 TBCE PAFAH1B1 NDEL1 MAPRE3 KIF5A DYNC1H1
20 microtubule plus-end GO:0035371 9.58 MAPRE3 DCTN1 CLIP1
21 central region of growth cone GO:0090724 9.56 PAFAH1B1 NDEL1
22 microtubule GO:0005874 9.28 TBCE PAFAH1B1 NDEL1 MAPRE3 KIF5A DYNC1H1

Biological processes related to Neuronopathy, Distal Hereditary Motor, Type Viib according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.91 PAFAH1B1 MAPRE3 DYNC1H1 DCTN1
2 cell division GO:0051301 9.85 PAFAH1B1 MAPRE3 DYNC1H1 DCTN1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.76 DYNC1H1 DCTN2 DCTN1
4 mitotic cell cycle GO:0000278 9.74 DYNC1H1 DCTN1 CLIP1
5 microtubule cytoskeleton organization GO:0000226 9.73 TBCE PAFAH1B1 NDEL1
6 G2/M transition of mitotic cell cycle GO:0000086 9.73 PAFAH1B1 DYNC1H1 DCTN2 DCTN1
7 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.67 KIF5A DYNC1H1 DCTN2 DCTN1
8 cytoplasmic microtubule organization GO:0031122 9.65 DYNC1H1 DCTN1 CLIP1
9 mitotic spindle organization GO:0007052 9.63 TBCE DYNC1H1 DCTN2
10 ciliary basal body-plasma membrane docking GO:0097711 9.62 PAFAH1B1 DYNC1H1 DCTN2 DCTN1
11 microtubule-based process GO:0007017 9.61 PAFAH1B1 DCTN2
12 positive regulation of axon extension GO:0045773 9.6 PAFAH1B1 NDEL1
13 neuromuscular junction development GO:0007528 9.59 DCTN1 ALS2
14 positive regulation of microtubule polymerization GO:0031116 9.58 DCTN1 CLIP1
15 establishment of mitotic spindle orientation GO:0000132 9.58 PAFAH1B1 NDEL1 DCTN1
16 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.56 PAFAH1B1 DYNC1H1 DCTN2 DCTN1
17 regulation of mitotic spindle organization GO:0060236 9.54 DYNC1H1 DCTN1
18 vesicle transport along microtubule GO:0047496 9.52 PAFAH1B1 NDEL1
19 regulation of intracellular protein transport GO:0033157 9.51 SH3TC2 NDEL1
20 regulation of microtubule motor activity GO:2000574 9.49 PAFAH1B1 NDEL1
21 nuclear migration GO:0007097 9.33 PAFAH1B1 DYNC1H1 DCTN1
22 retrograde axonal transport GO:0008090 9.13 PAFAH1B1 NDEL1 DYNC1H1
23 nuclear envelope disassembly GO:0051081 8.8 PAFAH1B1 NDEL1 DCTN1

Molecular functions related to Neuronopathy, Distal Hereditary Motor, Type Viib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.22 TBCE TARDBP SNPH SH3TC2 PAFAH1B1 NDEL1
2 identical protein binding GO:0042802 9.8 TARDBP PAFAH1B1 NDEL1 MAPRE3 DCTN2 CLIP1
3 motor activity GO:0003774 9.46 KIF5A DYNC1H1 DCTN2 DCTN1
4 alpha-tubulin binding GO:0043014 9.37 TBCE NDEL1
5 dynein intermediate chain binding GO:0045505 9.32 PAFAH1B1 DYNC1H1
6 microtubule plus-end binding GO:0051010 9.26 PAFAH1B1 MAPRE3 DCTN1 CLIP1
7 microtubule binding GO:0008017 9.17 SNPH PAFAH1B1 NDEL1 MAPRE3 KIF5A DCTN1

Sources for Neuronopathy, Distal Hereditary Motor, Type Viib

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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