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: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.700 CausalMutation disease CLINVAR
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.700 Biomarker disease GENOMICS_ENGLAND Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.700 GeneticVariation disease UNIPROT Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.700 GermlineCausalMutation disease ORPHANET Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.700 GeneticVariation disease CLINVAR Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0746882
Disease: Chronic neutropenia
Chronic neutropenia 		0.300 Biomarker disease GENOMICS_ENGLAND Autosomal recessive, partial GINS1 deficiency impairs DNA replication and underlies intra-uterine (and postnatal) growth retardation, chronic neutropenia, and NK cell deficiency. 28414293 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE The possible involvement of haploinsufficiency for GINS1, a DNA replication complex protein, in the short stature of the patient and her mother requires further studies. 24027063 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 Biomarker disease BEFREE Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C0013595
Disease: Eczema
Eczema 		0.100 Biomarker disease HPO
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.100 Biomarker disease HPO
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.100 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Therefore, PSF1 inhibition might provide new therapeutic approaches for breast cancer. 20825491 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE Aberrant expression of GINS1 mRNA and protein was observed in BrCa clinical specimens, and high GINS1 expression significantly predicted poor prognosis in patients with BrCa (overall survival rate: p = 0.0126). 31755218 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 Biomarker disease BEFREE Therefore, PSF1 inhibition might provide new therapeutic approaches for breast cancer. 20825491 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 AlteredExpression disease BEFREE Aberrant expression of GINS1 mRNA and protein was observed in BrCa clinical specimens, and high GINS1 expression significantly predicted poor prognosis in patients with BrCa (overall survival rate: p = 0.0126). 31755218 2020
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE PSF1 is a useful prognostic biomarker to stratify NSCLC patients treated with surgery following preoperative chemotherapy or chemoradiotherapy. 27380644 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 Biomarker disease BEFREE Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 28414293 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 Biomarker disease BEFREE A possible involvement of the PSF1 and PSF2 genes in susceptibility to MHC-associated diseases was examined in a preliminary assessment in patients with ankylosing spondylitis, insulin-dependent diabetes mellitus, or celiac disease. 1570316 1992
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		0.010 Biomarker disease BEFREE Anlotinib might suppress proliferation of SS through a novel downstream GINS1-regulated network which plays a vital function in SS proliferation and also demonstrated that targeting the GINS1-regulated signal pathway could be a potential strategy for management of SS. 30963468 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 Biomarker disease BEFREE The results showed that knockdown of PSF1 inhibited cell proliferation and caused cell cycle arrest of lung cancer cells in a p53-independent manner. 25398693 2015
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma 		0.010 Biomarker disease BEFREE Anlotinib might suppress proliferation of SS through a novel downstream GINS1-regulated network which plays a vital function in SS proliferation and also demonstrated that targeting the GINS1-regulated signal pathway could be a potential strategy for management of SS. 30963468 2019