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 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 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 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: 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: 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: 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: 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: 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