IRX5, iroquois homeobox 5, 10265

N. diseases: 63; 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: C0022904
Disease: Lacrimal Apparatus Diseases
Lacrimal Apparatus Diseases
group Eye Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 3 0.700 None 1.000 1 3 2012 2012
Mucinous tubular and spindle cell carcinoma
disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C1862142
Disease: Short 2nd finger
Short 2nd finger
phenotype Finding 7 0.100 None 0
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 13 0.300 None 1.000 1 2012 2012
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 1 2012 2012
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 8 0.300 None 1.000 1 2012 2012
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 16 0.100 None 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
phenotype Finding 20 0.100 None 0
Microcytic hypochromic anemia (disorder)
disease Hemic and Lymphatic Diseases Disease or Syndrome 25 3 0.300 None 1.000 1 2012 2012
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
disease Eye Diseases Disease or Syndrome 26 2 0.300 None 1.000 1 2012 2012
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay
phenotype Finding 27 21 0.100 None 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders
phenotype Finding 32 4 0.100 None 0
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.300 None 1.000 1 2012 2012
Iron-Refractory Iron Deficiency Anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.100 None 0
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 78 19 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 86 11 0.100 None 0
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
disease Endocrine System Diseases Disease or Syndrome 92 15 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C0276138
Disease: Viral myocarditis
Viral myocarditis
disease Infections; Cardiovascular Diseases Disease or Syndrome 129 2 0.010 None 1.000 1 2019 2019
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2019 2019
CUI: C0024433
Disease: Macrostomia
Macrostomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0