PLEK, pleckstrin, 5341

N. diseases: 83; N. variants: 6
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: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		disease Nervous System Diseases Disease or Syndrome 14 6 0.010 None 1.000 1 2018 2018
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea 		disease Disease or Syndrome 17 3 0.010 None 1.000 1 2012 2012
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 20 8 0.010 None 1.000 1 2008 2008
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 21 25 0.010 None 1.000 1 2003 2003
CUI: C0008029
Disease: Cherubism
Cherubism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 22 6 0.010 None 1.000 1 2008 2008
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.020 None 1.000 2 2010 2010
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.020 None 1.000 2 2000 2017
CUI: C0028860
Disease: Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 54 42 0.010 None 1.000 1 2010 2010
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 61 0.300 None 1.000 1 2008 2008
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 68 69 0.030 None 1.000 3 1995 2004
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 73 3 0.300 None 1.000 1 2008 2008
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 89 0.300 None 1.000 1 2008 2008
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 105 23 0.020 None 1.000 2 1990 2004
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections 		group Infections; Immune System Diseases Disease or Syndrome 134 5 0.010 None 1.000 1 2019 2019
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 153 18 0.010 None 1.000 1 2018 2018
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.010 None 1.000 1 2008 2008
CUI: C4290046
Disease: trachomatis
trachomatis 		disease Disease or Syndrome 175 7 0.010 None 1.000 1 2006 2006
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.030 None 1.000 3 2006 2010
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 2017 2017
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 212 32 0.010 None 1.000 1 2013 2013
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2016 2016
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.100 None 1.000 1 1 2019 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.010 None 1.000 1 1998 1998
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		disease Digestive System Diseases Disease or Syndrome 429 52 0.010 None < 0.001 1 2004 2004
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 449 10 0.010 None 1.000 1 2009 2009