PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
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: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.010 None 1.000 1 2004 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 0.010 None 1.000 1 2015 2015
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 155 2 0.010 None 1.000 1 2007 2007
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2012 2012
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None 1.000 1 2019 2019
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.010 None 1.000 1 2011 2011
CUI: C0028841
Disease: Ocular Hypotension
Ocular Hypotension
disease Eye Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2019 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2017 2017
Hereditary Motor and Sensory Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2005 2005
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 133 82 0.010 None 1.000 1 2010 2010
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 16 0.010 None 1.000 1 2017 2017
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases
group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.010 None 1.000 1 2015 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2008 2008
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 12 0.010 None 1.000 1 2009 2009
CUI: C0741975
Disease: carotid disease
carotid disease
disease Disease or Syndrome 7 5 0.010 None 1.000 1 2008 2008
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs
phenotype Sign or Symptom 24 5 0.010 None 1.000 1 1 1997 1997
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 1988 1988
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.010 None < 0.001 1 1 2014 2014
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 117 0.010 None 1.000 1 2012 2012
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.010 None 1.000 1 2012 2012
CUI: C0814161
Disease: impaired motor coordination
impaired motor coordination
phenotype Sign or Symptom 21 2 0.010 None 1.000 1 1998 1998
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma
disease Neoplasms Neoplastic Process 193 11 0.010 None 1.000 1 2017 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 1 2005 2005
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2012 2012
CUI: C0025289
Disease: Meningitis
Meningitis
disease Nervous System Diseases Disease or Syndrome 191 13 0.010 None 1.000 1 2019 2019