MYO5A, myosin VA, 4644

N. diseases: 82; N. variants: 4
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: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 2 0.900 None 1.000 3 2 1997 2011
CUI: C1860157
Disease: Elejalde Disease
Elejalde Disease 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 0.500 strong 1.000 1 2002 2002
CUI: C1836573
Disease: GRISCELLI SYNDROME, TYPE 3
GRISCELLI SYNDROME, TYPE 3 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.500 None 1.000 2 2002 2003
CUI: C1843389
Disease: Accumulation of melanosomes in melanocytes
Accumulation of melanosomes in melanocytes 		phenotype Finding 2 0.100 None 0
CUI: C1843390
Disease: Melanin pigment aggregation in hair shafts
Melanin pigment aggregation in hair shafts 		phenotype Finding 2 0.100 None 0
CUI: C3495588
Disease: Acrocephalopolydactylous Dysplasia
Acrocephalopolydactylous Dysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.300 limited 0
CUI: C0474967
Disease: Spindle cell nevus of Reed
Spindle cell nevus of Reed 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C1836576
Disease: Silver-gray hair
Silver-gray hair 		phenotype Finding 4 0.100 None 0
CUI: C4022153
Disease: Cerebral cortical hemiatrophy
Cerebral cortical hemiatrophy 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		disease Disease or Syndrome 9 7 0.100 None 0 1
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula 		phenotype Finding 11 0.100 None 0
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 14 3 0.380 strong 0.889 9 1 1997 2010
CUI: C0239804
Disease: White hair
White hair 		phenotype Finding 18 0.100 None 0
CUI: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy 		disease Disease or Syndrome 22 0.100 None 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		phenotype Finding 23 1 0.100 None 0
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 33 4 0.100 None 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 42 0.100 None 0
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.020 None 1.000 2 2003 2004
CUI: C0878773
Disease: Overactive Bladder
Overactive Bladder 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2019 2019
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.010 None 1.000 1 2008 2008
CUI: C0012569
Disease: Diplopia
Diplopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 75 5 0.100 None 0
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.100 None 0