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non-severe combined immunodeficiency due to polymerase delta deficiency
non-severe combined immunodeficiency due to polymerase delta deficiency
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
non-severe combined immunodeficiency due to polymerase delta deficiency
POLD1
Unknown
—
ClinGen
DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
Homologous recombination
Recognition of DNA damage by PCNA-containing replication complex
Polymerase switching on the C-strand of the telomere
Processive synthesis on the C-strand of the telomere
Telomere C-strand (Lagging Strand) Synthesis
Removal of the Flap Intermediate from the C-strand
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
PCNA-Dependent Long Patch Base Excision Repair
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand
+19 more
POLD2
Unknown
—
ClinGen
DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair
Homologous recombination
Recognition of DNA damage by PCNA-containing replication complex
Polymerase switching on the C-strand of the telomere
Processive synthesis on the C-strand of the telomere
Telomere C-strand (Lagging Strand) Synthesis
Removal of the Flap Intermediate from the C-strand
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
PCNA-Dependent Long Patch Base Excision Repair
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand
+19 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
Related Diseases
Diseases that share the most curated genes with non-severe combined immunodeficiency due to polymerase delta deficiency.
5
View disease cluster →
POLD1-related polyposis and colorectal cancer syndrome
1 shared gene
POLD1
Related via 1 shared gene including POLD1.
mandibular hypoplasia-deafness-progeroid syndrome
1 shared gene
POLD1
Related via 1 shared gene including POLD1.
Colorectal cancer susceptibility
1 shared gene
POLD1
Related via 1 shared gene including POLD1.
Micrognathism
1 shared gene
POLD1
Related via 1 shared gene including POLD1.
Lipodystrophy
1 shared gene
POLD1
Related via 1 shared gene including POLD1.
1
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