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Paramyotonia congenita
Paramyotonia congenita
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
PARAMYOTONIA CONGENITA
C0221055
168300
RANBP2
Unknown
—
Disgenet
Nucleocytoplasmic transport
Viral life cycle - HIV-1
Amyotrophic lateral sclerosis
ISG15 antiviral mechanism
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
RHO GTPases Activate Formins
tRNA processing in the nucleus
Mitotic Prometaphase
HCMV Early Events
HCMV Late Events
EML4 and NUDC in mitotic spindle formation
+32 more
SCN4A
Unknown
—
HPO
,
Disgenet
Phase 0 - rapid depolarisation
All
2
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
0
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Hyperkalemic periodic paralysis
2 shared genes
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Related via 2 shared genes including SCN4A, RANBP2.
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1 shared gene
SCN4A
Related via 1 shared gene including SCN4A.
Potassium-aggravated myotonia
1 shared gene
SCN4A
Related via 1 shared gene including SCN4A.
SCN4A-related myopathy, autosomal recessive
1 shared gene
SCN4A
Related via 1 shared gene including SCN4A.
familial acute necrotizing encephalopathy
1 shared gene
RANBP2
Related via 1 shared gene including RANBP2.
1
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