MYO5B, myosin VB, 4645

N. diseases: 60; N. variants: 21
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: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0085679
Disease: Hyperchloremia
Hyperchloremia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 12 2 0.100 None 0 2
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.100 None 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.100 None 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 12 6 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0 2
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.100 None 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 3 0.100 None 0
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 16 1.000 None 0.958 24 15 2008 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.330 None 1.000 4 1 2008 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.110 None 1.000 2 1 2008 2013
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.410 None 1.000 2 2008 2017
CUI: C0236733
Disease: Amphetamine-Related Disorders
Amphetamine-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 78 3 0.300 None 1.000 1 2008 2008
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		group Infections Disease or Syndrome 462 26 0.010 None 1.000 1 2008 2008
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 75 0.300 None 1.000 1 2008 2008
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 81 2 0.300 None 1.000 1 2008 2008
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		group Digestive System Diseases Disease or Syndrome 209 13 0.300 None 1.000 1 2008 2008