PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0023066
Disease: Laryngospasm
Laryngospasm
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.100 None 0
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0033790
Disease: Pseudobulbar Palsy
Pseudobulbar Palsy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.100 None 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.060 None 1.000 6 1994 2011
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.050 None 1.000 5 1995 2007
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis
disease Eye Diseases Disease or Syndrome 10 5 0.040 None 1.000 4 1995 2009
CUI: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina
disease Eye Diseases Disease or Syndrome 4 0.030 None 1.000 3 1995 2001
Adult-Onset Vitelliform Macular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 16 0.030 None 1.000 3 1997 2008
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Eye Diseases Disease or Syndrome 52 59 0.030 None 1.000 3 1996 2009
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy
disease Congenital Abnormality 39 10 0.030 None 1.000 3 1996 2009
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
disease Disease or Syndrome 138 21 0.030 None 1.000 3 2000 2008
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.020 None 1.000 2 1996 1996
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.020 None 1.000 2 1994 1996
Respiratory Distress Syndrome, Newborn
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.020 None 1.000 2 1996 1997
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.020 None 1.000 2 1996 1996
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.020 None 1.000 2 1996 1996