PFKL, phosphofructokinase, liver type, 5211

N. diseases: 19; N. variants: 0
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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.320 None 1.000 5 1995 2001
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.310 None 1.000 1 1996 1996
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.300 limited 0
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.030 None 1.000 3 1995 2001
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7
disease Mental Disorders Mental or Behavioral Dysfunction 127 8 0.020 None 1.000 2 1999 2001
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8
disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.020 None 1.000 2 1999 2001
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9
disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.020 None 1.000 2 1999 2001
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4
disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.020 None 1.000 2 1999 2001
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1
disease Mental Disorders Mental or Behavioral Dysfunction 161 34 0.020 None 1.000 2 1999 2001
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6
disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.020 None 1.000 2 1999 2001
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.020 None 1.000 2 2001 2004
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.020 None 1.000 2 1995 1997
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.020 None 1.000 2 2001 2004
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.010 None 1.000 1 1995 1995
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.010 None 1.000 1 2001 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2019 2019
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.010 None 1.000 1 2001 2001
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2004 2004
CUI: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 0.010 None 1.000 1 1992 1992