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Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
208250
C1859690
MONDO:0008828
PRG4
Causal
10545950
15719068
20191580
27224999
29397575
ClinGen
,
ClinVar
,
Disgenet
,
HPO
—
TPR
Unknown
—
Disgenet
Nucleocytoplasmic transport
Amyotrophic lateral sclerosis
Pathways in cancer
Thyroid cancer
ISG15 antiviral mechanism
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
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)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events
+27 more
CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME
2848
PRG4
Unknown
10545950
Orphanet
,
ClinGen
—
All
2
Causal
1
Unknown
2
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
2
CTD
0
HPO
1
GWAS catalog
0
GenCC
0
ClinGen
1
Related Diseases
Diseases that share the most curated genes with Camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
5
View disease cluster →
Contracture
1 shared gene
PRG4
Related via 1 shared gene including PRG4.
Pericarditis
1 shared gene
PRG4
Related via 1 shared gene including PRG4.
Secondary malignant neoplasm
1 shared gene
PRG4
Related via 1 shared gene including PRG4.
Hyperplasia
1 shared gene
PRG4
Related via 1 shared gene including PRG4.
Thyroid neoplasms
1 shared gene
TPR
Related via 1 shared gene including TPR.
1
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