PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
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: C4510408
Disease: McLeod neuroacanthocytosis syndrome
McLeod neuroacanthocytosis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C0393577
Disease: Pallidal degeneration
Pallidal degeneration 		disease Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C2751506
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL 		disease Finding 1 5 0.100 None 0 5
CUI: C0424323
Disease: Physical aggression
Physical aggression 		phenotype Behavior and Behavior Mechanisms Individual Behavior 2 0.100 None 0
CUI: C4025705
Disease: Eye of the tiger anomaly of globus pallidus
Eye of the tiger anomaly of globus pallidus 		phenotype Finding 2 0.100 None 0
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 16 0.010 None 1.000 1 2003 2003
CUI: C0392185
Disease: Verbal repetition
Verbal repetition 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C4021076
Disease: Iron accumulation in brain
Iron accumulation in brain 		phenotype Finding 3 38 0.100 None 0
CUI: C4022575
Disease: Inertia
Inertia 		phenotype Finding 4 0.100 None 0
CUI: C0240129
Disease: Knee stiff
Knee stiff 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2018 2018
CUI: C4517377
Disease: Coenzyme A synthase protein associated neurodegeneration
Coenzyme A synthase protein associated neurodegeneration 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1142448
Disease: Apraxia of eyelid
Apraxia of eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C0751900
Disease: Tic, Motor
Tic, Motor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.100 None 0
CUI: C1846582
Disease: Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 5 0.620 None 1.000 3 5 2002 2006
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.030 None 0.667 3 2005 2015
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 51 0.020 None 1.000 2 2008 2018
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 134 0.010 None 1.000 1 2010 2010
CUI: C0853085
Disease: Decreased LDL cholesterol concentration
Decreased LDL cholesterol concentration 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 9 0.100 None 0
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		phenotype Finding 10 2 0.100 None 0
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue 		disease Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 10 0.100 None 0
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		disease Nervous System Diseases Disease or Syndrome 11 16 0.010 None 1.000 1 2010 2010
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.010 None 1.000 1 2003 2003
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 1 0.100 None 0
CUI: C0018522
Disease: Hallermann's Syndrome
Hallermann's Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 13 1 0.020 None 1.000 2 2004 2005
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype Nervous System Diseases Finding 13 7 0.100 None 0