DIPK1A, divergent protein kinase domain 1A, 388650

N. diseases: 33; N. variants: 22
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: C4025285
Disease: Microspherocytosis
Microspherocytosis 		disease Disease or Syndrome 13 1 0.100 None 0 1
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0 1
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 5 1 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0 1
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0 1
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0 1
CUI: C1837246
Disease: Intracerebral periventricular calcifications
Intracerebral periventricular calcifications 		phenotype Finding 5 1 0.100 None 0 1
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		disease Disease or Syndrome 14 1 0.100 None 0 1
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0 1
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0 1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0 1
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0 1
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.100 None 0 1
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0 1
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 5 0.100 None 0 5
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 13 0.100 None 0 1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0 1
CUI: C0018916
Disease: Hemangioma
Hemangioma 		disease Neoplasms Neoplastic Process 256 24 0.100 None 0 1
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0 1
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.100 None 0 1
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		disease Male Urogenital Diseases Congenital Abnormality 21 5 0.100 None 0 1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 1 1 2008 2008
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.100 None 1.000 1 2 2010 2010
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.100 None 1.000 1 2 2010 2010
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2010 2010