Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 Biomarker disease BEFREE Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). 22373003 2012
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 GeneticVariation disease UNIPROT Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity. 17317666 2007
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 GeneticVariation disease UNIPROT XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. 16439205 2006
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 Biomarker disease GENOMICS_ENGLAND Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. 16439204 2006
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 GeneticVariation disease UNIPROT Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. 16439204 2006
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 CausalMutation disease CLINVAR
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 Biomarker disease CTD_human
CUI: C1969799
Disease: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.310 Biomarker disease BEFREE Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review. 28741180 2017
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.140 GeneticVariation disease BEFREE Patients with XLF mutation exhibit microcephaly, lymphopenia, and growth retardation, and are immunodeficient and radiosensitive. 28846869 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.140 Biomarker disease BEFREE Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). 22373003 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.140 GeneticVariation disease BEFREE Cernunnos/XLF is a recently identified NHEJ gene which is mutated in immunodeficiency with microcephaly patients. 19223975 2009
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.140 GeneticVariation disease BEFREE The NHEJ1 gene was recently identified as being responsible for autosomal recessive immunodeficiency with microcephaly. 17191205 2007
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.140 Biomarker disease HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.120 GeneticVariation group BEFREE Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. 28741180 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.120 Biomarker group BEFREE Patients with mutations in genes encoding LIG4, XRCC4-like factor, or the other NHEJ proteins DNA-dependent protein kinase catalytic subunit and Artemis are DSB repair defective and immunodeficient because of the requirement for NHEJ during V(D)J recombination. 26255102 2015
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.120 Biomarker group HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analysis identifies 20 loci that influence adult height. 18391952 2008
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Genome-wide association analysis identifies 20 loci that influence adult height. 18391952 2008
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO