FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
disease Disease or Syndrome 1 2 0.700 None 1.000 3 2 2016 2016
CUI: C1299888
Disease: laminitis
laminitis
disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated
disease Congenital Abnormality 20 2 0.010 None 1.000 1 2009 2009
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
phenotype Finding 41 2 0.100 None 0
CUI: C0014179
Disease: Endometritis
Endometritis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 46 2 0.010 None 1.000 1 2018 2018
CUI: C0401149
Disease: Chronic constipation
Chronic constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
phenotype Finding 49 1 0.100 None 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges
phenotype Finding 52 9 0.100 None 0
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 55 9 0.010 None 1.000 1 2016 2016
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
phenotype Laboratory Procedure 58 306 0.100 None 1.000 1 1 2008 2008
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.010 None 1.000 1 2013 2013
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology
phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
disease Musculoskeletal Diseases Disease or Syndrome 77 43 0.010 None 1.000 1 2016 2016
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0024894
Disease: Mastitis
Mastitis
disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 103 1 0.010 None 1.000 1 2018 2018
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.010 None 1.000 1 4 2017 2017
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease Finding 127 8 0.100 None 0
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
phenotype Organism Function 131 1106 0.100 None 1.000 1 1 2015 2015
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2019 2019
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0