CD3E, CD3e molecule, 916

N. diseases: 73; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 CausalMutation disease CLINVAR
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 Biomarker disease CTD_human
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.410 Biomarker group HPO
CUI: C1861284
Disease: Immunodeficiency due to Defect in CD3-Epsilon
Immunodeficiency due to Defect in CD3-Epsilon 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C3810129
Disease: IMMUNODEFICIENCY 18, SCID VARIANT
IMMUNODEFICIENCY 18, SCID VARIANT 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0003123
Disease: Anorexia
Anorexia 		0.100 Biomarker disease HPO
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.100 Biomarker disease HPO
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.100 Biomarker group HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.100 Biomarker disease HPO
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		0.100 Biomarker phenotype HPO
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea 		0.100 Biomarker disease HPO
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.100 Biomarker disease HPO
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		0.100 Biomarker disease HPO
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		0.100 Biomarker phenotype HPO
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C3808828
Disease: Recurrent gastroenteritis
Recurrent gastroenteritis 		0.100 Biomarker phenotype HPO
CUI: C3810128
Disease: IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT 		0.100 CausalMutation disease CLINVAR
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis 		0.100 Biomarker disease HPO
CUI: C4025684
Disease: Recurrent abscess formation
Recurrent abscess formation 		0.100 Biomarker phenotype HPO
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		0.100 Biomarker phenotype HPO