PRPF6, pre-mRNA processing factor 6, 24148

N. diseases: 76; N. variants: 3
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: C3151434
Disease: RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 60 		disease Disease or Syndrome 1 1 0.700 None 1.000 1 1 2011 2011
CUI: C4284284
Disease: Neuronal Ceroid Lipofuscinosis Type 4B
Neuronal Ceroid Lipofuscinosis Type 4B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 1993 1993
CUI: C2718001
Disease: Protein Misfolding Disorders
Protein Misfolding Disorders 		disease Nutritional and Metabolic Diseases Disease or Syndrome 38 1 0.010 None 1.000 1 2015 2015
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.090 None 1.000 9 2002 2018
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 51 13 0.010 None 1.000 1 1993 1993
CUI: C0030807
Disease: Pemphigus
Pemphigus 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 67 3 0.010 None 1.000 1 1991 1991
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.010 None 1.000 1 1993 1993
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.020 None 1.000 2 2011 2015
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.010 None 1.000 1 2008 2008
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8 		disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.010 None 1.000 1 2003 2003
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9 		disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.010 None 1.000 1 2003 2003
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 127 11 0.010 None 1.000 1 1991 1991
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7 		disease Mental Disorders Mental or Behavioral Dysfunction 127 8 0.010 None 1.000 1 2003 2003
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.010 None 1.000 1 2007 2007
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.030 None 0.667 3 1993 2005
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.010 None 1.000 1 2012 2012
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.010 None 1.000 1 2003 2003
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.010 None 1.000 1 2003 2003
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		disease Mental Disorders Mental or Behavioral Dysfunction 161 34 0.010 None 1.000 1 2003 2003