CDA, cytidine deaminase, 978

N. diseases: 103; N. variants: 9
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: C0458101
Disease: Cervicogenic Headache
Cervicogenic Headache 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1567426
Disease: Unilateral Multicystic Dysplastic Kidney
Unilateral Multicystic Dysplastic Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 3 0.010 None 1.000 1 2014 2014
CUI: C0850672
Disease: hereditary anemia
hereditary anemia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1739382
Disease: Chronic iron overload
Chronic iron overload 		disease Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C3666003
Disease: Transfusion dependent anaemia
Transfusion dependent anaemia 		disease Disease or Syndrome 6 0.010 None 1.000 1 2014 2014
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2017 2017
CUI: C0852711
Disease: Sickle Cell Dactylitis
Sickle Cell Dactylitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Chemically-Induced Disorders; Hemic and Lymphatic Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 2011 2011
CUI: C2350242
Disease: Osteoarthritis, Spine
Osteoarthritis, Spine 		disease Musculoskeletal Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 2008 2008
CUI: C2675746
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 2017 2017
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		disease Skin and Connective Tissue Diseases; Chemically-Induced Disorders Disease or Syndrome 11 8 0.010 None 1.000 1 2011 2011
CUI: C0311276
Disease: Severe malnutrition
Severe malnutrition 		disease Disease or Syndrome 13 1 0.010 None 1.000 1 2019 2019
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 20 30 0.020 None 1.000 2 2 2008 2011
CUI: C0038012
Disease: Spondylitis
Spondylitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 20 0.010 None 1.000 1 2009 2009
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2019 2019
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 14 0.010 None 1.000 1 2011 2011
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 1 2012 2012
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 39 12 0.010 None 1.000 1 2018 2018
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2018 2018
CUI: C0268381
Disease: Primary amyloidosis
Primary amyloidosis 		disease Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 59 11 0.010 None 1.000 1 2018 2018
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		disease Disease or Syndrome 62 24 0.010 None 1.000 1 2 2017 2017
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.010 None < 0.001 1 1 2015 2015
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 70 111 0.040 None 0.750 4 2 2008 2014
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		disease Neoplasms Neoplastic Process 86 1 0.010 None 1.000 1 2015 2015
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 38 0.010 None 1.000 1 2019 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		disease Neoplasms; Immune System Diseases Neoplastic Process 94 11 0.010 None 1.000 1 2017 2017