YME1L1, YME1 like 1 ATPase, 10730

N. diseases: 60; N. variants: 2
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: C4310628
Disease: OPTIC ATROPHY 11
OPTIC ATROPHY 11
disease Disease or Syndrome 1 1 0.600 None 1.000 2 1 2016 2018
CUI: C1836003
Disease: Facial diplegia
Facial diplegia
phenotype Infections; Nervous System Diseases; Stomatognathic Diseases Finding 42 4 0.100 None 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.010 None 1.000 1 2020 2020
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C0006840
Disease: Candidiasis
Candidiasis
disease Infections Disease or Syndrome 95 8 0.010 None 1.000 1 2019 2019
CUI: C0023646
Disease: Lichen Planus
Lichen Planus
disease Skin and Connective Tissue Diseases Disease or Syndrome 106 4 0.010 None 1.000 1 2018 2018
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.030 None 1.000 3 2017 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.010 None 1.000 1 2000 2000
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
Non-arthropod borne lymphocytic choriomeningitis
disease Infections; Nervous System Diseases Disease or Syndrome 133 0.010 None 1.000 1 2018 2018
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.100 None 0
CUI: C0024266
Disease: Lymphocytic Choriomeningitis
Lymphocytic Choriomeningitis
disease Infections; Nervous System Diseases Disease or Syndrome 147 0.010 None 1.000 1 2018 2018
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
disease Nervous System Diseases Disease or Syndrome 182 46 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.100 None 0
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases
group Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 195 20 0.010 None < 0.001 1 2018 2018
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection
group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 219 14 0.010 None 1.000 1 2017 2017
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0014038
Disease: Encephalitis
Encephalitis
disease Nervous System Diseases Disease or Syndrome 324 18 0.010 None 1.000 1 2019 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.010 None 1.000 1 2019 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.010 None 1.000 1 2016 2016