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
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.400 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
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: 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
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.100 Biomarker group HPO
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: 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: 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 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: 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