RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype Infections Finding 32 0.100 None 0
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		phenotype Finding 7 0.100 None 0
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		phenotype Finding 10 2 0.100 None 0
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		phenotype Finding 14 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		phenotype Infections Finding 10 0.100 None 0
CUI: C0024904
Disease: Mastoiditis
Mastoiditis 		disease Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		disease Respiratory Tract Diseases Disease or Syndrome 66 9 0.100 None 0
CUI: C0264272
Disease: Purulent rhinitis
Purulent rhinitis 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 3 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		disease Endocrine System Diseases Disease or Syndrome 104 7 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.100 None 0
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
Decreased lymphocyte proliferation in response to mitogen 		phenotype Cell or Molecular Dysfunction 13 0.100 None 0