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Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant
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Subtype of:
Spinal muscular atrophy
·
Spinal muscular atrophy, lower extremity predominant, autosomal dominant
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Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Spinal muscular atrophy, lower extremity-predominant 1, AD
MONDO_0008026
DYNC1H1
Unknown
25609763
25512093
28554554
22459677
Open Targets
Phagosome
Motor proteins
Vasopressin-regulated water reabsorption
Salmonella infection
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
Neutrophil degranulation
COPI-mediated anterograde transport
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
AURKA Activation by TPX2
HCMV Early Events
Aggrephagy
EML4 and NUDC in mitotic spindle formation
+21 more
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant
MONDO_0008026
DYNC1H1
Unknown
25512093
28193117
22847149
22459677
26846447
25484024
21820100
Open Targets
Phagosome
Motor proteins
Vasopressin-regulated water reabsorption
Salmonella infection
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
Neutrophil degranulation
COPI-mediated anterograde transport
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
AURKA Activation by TPX2
HCMV Early Events
Aggrephagy
EML4 and NUDC in mitotic spindle formation
+21 more
All
1
Causal
0
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
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1 shared gene
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Related via 1 shared gene including DYNC1H1.
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Related via 1 shared gene including DYNC1H1.
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Related via 1 shared gene including DYNC1H1.
1
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