HYOU1, hypoxia up-regulated 1, 10525

N. diseases: 66; N. variants: 2
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: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2014 2014
CUI: C1856263
Disease: Granulocytopenia with Immunoglobulin Abnormality
Granulocytopenia with Immunoglobulin Abnormality 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2017 2017
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		phenotype Organism Function 131 1106 0.100 None 1.000 1 1 2015 2015
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0276226
Disease: Herpes encephalitis
Herpes encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 42 1 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.100 None 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0038362
Disease: Stomatitis
Stomatitis 		disease Stomatognathic Diseases Disease or Syndrome 109 22 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype Finding 20 5 0.100 None 0
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0
CUI: C1843392
Disease: Death in childhood
Death in childhood 		phenotype Finding 25 2 0.100 None 0
CUI: C0426422
Disease: Narrow nose
Narrow nose 		phenotype Finding 17 1 0.100 None 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.100 None 0