GINS1, GINS complex subunit 1, 9837

N. diseases: 40; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.100 Biomarker group HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 AlteredExpression group BEFREE Previous studies have suggested that transcriptional activity of the PSF1 gene correlated with malignancy of cancer cells. 25403418 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE Soluble HLA-associated peptide from PSF1 has a cancer vaccine potency. 28894200 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE Previous studies have shown that PSF1 is unregulated in several cancer and associated with tumor malignant characters. 25398693 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE The cell cycle delay of Psf1/Psf2-depleted HDF was associated with several hallmarks of pre-malignancy including gammaH2AX, Thr 68-phosphorylated Chk2, and increased numbers of aberrant fragmented nuclei. 19377277 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE The cell cycle delay of Psf1/Psf2-depleted HDF was associated with several hallmarks of pre-malignancy including gammaH2AX, Thr 68-phosphorylated Chk2, and increased numbers of aberrant fragmented nuclei. 19377277 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE Soluble HLA-associated peptide from PSF1 has a cancer vaccine potency. 28894200 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 AlteredExpression group BEFREE Previous studies have suggested that transcriptional activity of the PSF1 gene correlated with malignancy of cancer cells. 25403418 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE Previous studies have shown that PSF1 is unregulated in several cancer and associated with tumor malignant characters. 25398693 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE Recently, we have investigated PSF1 functions in cancer cells and found that PSF1 plays a significant role in tumour growth. 28894200 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE Our results showed that the PSF1 expression correlated significantly with PSA values at diagnosis (P=0.0028), with tumor grade (P<0.0001), and with clinical stage (P=0.0005). 25403418 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE Because stem and progenitor cells possess high proliferative capacity, we hypothesized that PSF1 may play an important role in tumor growth. 20103637 2010
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.400 Biomarker phenotype GENOMICS_ENGLAND Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.400 Biomarker phenotype HPO
CUI: C4693357
Disease: NK cell deficiency
NK cell deficiency 		0.300 Biomarker phenotype GENOMICS_ENGLAND Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.100 Biomarker phenotype HPO
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		0.100 Biomarker phenotype HPO
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE 		0.100 Biomarker phenotype HPO