CENPS-CORT, CENPS-CORT readthrough, 100526739

N. diseases: 6; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 AlteredExpression group BEFREE We show that suppression of MHF1 expression results in (1) destabilization of FANCM and MHF2, (2) impairment of DNA damage-induced monoubiquitination and foci formation of FANCD2, (3) defective chromatin localization of FA nuclear core complex proteins, (4) elevated MMC-induced chromosome aberrations, and (5) sensitivity to MMC and camptothecin. 20347429 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE These results indicate that APITD1 is not the tumor suppressor gene on 1p36 responsible for the negative prognostic effect in uveal melanoma with concurrent loss of chromosome arm 1p, region 36, and chromosome 3. 17962439 2007
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.010 Biomarker disease BEFREE These results indicate that APITD1 is not the tumor suppressor gene on 1p36 responsible for the negative prognostic effect in uveal melanoma with concurrent loss of chromosome arm 1p, region 36, and chromosome 3. 17962439 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 GeneticVariation disease BEFREE Automated genomic DNA sequencing of the coding region of the gene as well as the promoter sequence in 44 neuroblastoma tumours did not reveal any loss-of-function mutations, indicating that mutations in APITD1 is not a common abnormality of neuroblastoma tumours. 15328517 2004
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 GeneticVariation disease BEFREE Automated genomic DNA sequencing of the coding region of the gene as well as the promoter sequence in 44 neuroblastoma tumours did not reveal any loss-of-function mutations, indicating that mutations in APITD1 is not a common abnormality of neuroblastoma tumours. 15328517 2004
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 GeneticVariation disease BEFREE Automated genomic DNA sequencing of the coding region of the gene as well as the promoter sequence in 44 neuroblastoma tumours did not reveal any loss-of-function mutations, indicating that mutations in APITD1 is not a common abnormality of neuroblastoma tumours. 15328517 2004