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: 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: 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: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.030 None 1.000 3 1993 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.030 None 1.000 3 2008 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2002 2017
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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.020 None 1.000 2 2005 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2002 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.020 None 1.000 2 2003 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2008 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2008 2014
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 0.010 None 1.000 1 2003 2003
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2010 2010
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.010 None 1.000 1 2018 2018
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: 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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.010 None 1.000 1 2005 2005
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: 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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2014 2014
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None < 0.001 1 2011 2011
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2006 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2000 2000