RFX5, regulatory factor X5, 5993

N. diseases: 64; N. variants: 3
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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0014038
Disease: Encephalitis
Encephalitis 		disease Nervous System Diseases Disease or Syndrome 324 18 0.100 None 0
CUI: C0015230
Disease: Exanthema
Exanthema 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 338 35 0.100 None 0
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.100 None 0
CUI: C1849426
Disease: Lack of T cell function
Lack of T cell function 		phenotype Finding 7 0.100 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2017 2019
CUI: C0451696
Disease: Major histocompatibility complex class II deficiency
Major histocompatibility complex class II deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1997 1997
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2017 2019
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.100 None 0
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2019 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		phenotype Finding 12 1 0.100 None 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0