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Genes
DCLRE1C
Gene - DCLRE1C
full name
DNA cross-link repair 1C
synonyms
A-SCID, DCLREC1C, hSNM1C, RS-SCID, SCIDA, SNM1C, DCLRE1C, ENSG00000152457
HGNC
HGNC:17642
Entrez Gene
Gene:64421
ENSEMBL
ENSG00000152457
location
chr: 10
start: 14948870
stop: 14996106
strand: -
OMIM
OMIM:605988
: DCLRE1C
(Autosomal recessive inheritance)
OMIM:603554
: Omenn syndrome
OMIM:602450
: Severe combined immunodeficiency, Athabascan type
transcripts
NM_022487.2
NM_001033855.1
NM_001033857.1
NM_001033858.1
pathways
DNA Double-Strand Break Repair
[NCBI:1309095]
[REACTOME:R-HSA-5693532]
[PUBMED:12897142]
[PUBMED:20965415]
DNA Repair
[NCBI:1270350]
[REACTOME:R-HSA-73894]
[PUBMED:10583946]
[PUBMED:23175119]
Non-homologous end-joining
[NCBI:83047]
[KEGG:hsa03450]
[PUBMED:17506672]
[PUBMED:15578053]
[PUBMED:16971555]
[PUBMED:17589524]
[PUBMED:12215643]
[PUBMED:16895466]
Nonhomologous End-Joining (NHEJ)
[NCBI:1309110]
[REACTOME:R-HSA-5693571]
[PUBMED:10802669]
[PUBMED:21293379]
[PUBMED:16914548]
[PUBMED:12509254]
[PUBMED:12607005]
[PUBMED:17470781]
[PUBMED:12364621]
[PUBMED:11493912]
[PUBMED:23333306]
[PUBMED:22179609]
[PUBMED:25512557]
[PUBMED:22529269]
[PUBMED:23505375]
[PUBMED:15574327]
[PUBMED:12077346]
[PUBMED:11030616]
[PUBMED:14561766]
[PUBMED:8422676]
[PUBMED:23727112]
[PUBMED:17525340]
[PUBMED:23306437]
[PUBMED:10757784]
[PUBMED:16439205]
[PUBMED:10959836]
[PUBMED:15790808]
[PUBMED:16377563]
[PUBMED:11955432]
[PUBMED:22373579]
[PUBMED:19001859]
[PUBMED:12023295]
[PUBMED:15451442]
[PUBMED:16093244]
[PUBMED:10572166]
Primary immunodeficiency
[NCBI:83125]
[KEGG:hsa05340]
[PUBMED:11941303]
[PUBMED:18093537]
[PUBMED:11058677]
[PUBMED:17952897]
[PUBMED:14699405]
[PUBMED:15661024]
[PUBMED:14647478]
[PUBMED:17960151]
[PUBMED:16261175]