RAB27A, RAB27A, member RAS oncogene family, 5873

N. diseases: 108; N. variants: 13
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: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
GRISCELLI SYNDROME, TYPE 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 11 0.800 None 1.000 28 11 2000 2019
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 0.500 strong 1.000 21 1 2000 2015
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 117 13 0.300 None 0.923 13 1 2000 2016
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 strong 1.000 1 2008 2008
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 22 1 0.210 None 1.000 5 1997 2001
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 9 0.200 None 1.000 1 2002 2002
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.130 None 1.000 3 1997 2011
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.130 None 1.000 3 1 2012 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.120 None 1.000 2 2003 2013
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		disease Disease or Syndrome 36 2 0.110 None 1.000 1 2003 2003
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 12 2008 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.909 11 2010 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 1.000 10 2008 2019
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group Nervous System Diseases Finding 55 11 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C1836576
Disease: Silver-gray hair
Silver-gray hair 		phenotype Finding 4 0.100 None 0
CUI: C1843386
Disease: Reduced delayed hypersensitivity
Reduced delayed hypersensitivity 		phenotype Finding 4 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 33 4 0.100 None 0
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