IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.700 Biomarker disease CTD_human
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.590 CausalMutation disease CGI
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GermlineCausalMutation disease ORPHANET
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.500 Biomarker disease HPO
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.500 CausalMutation disease CLINVAR
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.500 GeneticVariation disease CLINVAR
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.320 CausalMutation disease CGI
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
CUI: C0243026
Disease: Sepsis
Sepsis 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		0.100 Biomarker phenotype HPO
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.100 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0013595
Disease: Eczema
Eczema 		0.100 Biomarker disease HPO
CUI: C0013604
Disease: Edema
Edema 		0.100 Biomarker phenotype HPO
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO