Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.620 GeneticVariation disease BEFREE A heterozygous mutation in LRRC8A that truncates the 2 terminal LRRs was reported in a patient with agammaglobulinemia and absent B cells and was demonstrated to exert a dominant negative effect on T- and B-cell development in mice. 28192143 2017
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.620 GeneticVariation disease BEFREE A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. 14660746 2003
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.620 Biomarker disease HPO
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.620 Biomarker disease CTD_human
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C1832241
Disease: Agammaglobulinemia, non-Bruton type
Agammaglobulinemia, non-Bruton type 		0.300 GermlineCausalMutation disease ORPHANET A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. 14660746 2003
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		0.300 Biomarker disease CTD_human
CUI: C3150753
Disease: AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0003864
Disease: Arthritis
Arthritis 		0.100 Biomarker disease HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.100 Biomarker disease HPO
CUI: C0007642
Disease: Cellulitis
Cellulitis 		0.100 Biomarker phenotype HPO
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0015230
Disease: Exanthema
Exanthema 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.100 Biomarker group HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO