LYST, lysosomal trafficking regulator, 1130

N. diseases: 114; N. variants: 18
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: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 41 14 1.000 None 0.982 56 12 1968 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.400 strong 1.000 3 2002 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.310 None 1.000 3 2014 2014
CUI: C0001916
Disease: Albinism
Albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 27 0.300 strong 1.000 3 2002 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.300 strong 1.000 3 2002 2014
Attenuated Chédiak-Higashi syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
disease Eye Diseases Disease or Syndrome 94 74 0.220 None 1.000 6 1984 2012
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
disease Hemic and Lymphatic Diseases Disease or Syndrome 22 1 0.200 None 1.000 5 1984 2009
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.110 None 1.000 1 2017 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2009 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.100 None 1.000 2 2 2009 2015
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0 1
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0 1
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C0239804
Disease: White hair
White hair
phenotype Finding 18 0.100 None 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies
disease Nervous System Diseases Disease or Syndrome 81 1 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 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