SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
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: C0016506
Disease: Foot Deformities
Foot Deformities 		group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.440 strong 1.000 4 2011 2020
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0 1
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0265736
Disease: Congenital anomaly of nose
Congenital anomaly of nose 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 6 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 20 0.100 None 0 1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0 1
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		disease Infections Disease or Syndrome 222 1 0.100 None 0.971 104 2000 2020
CUI: C0149778
Disease: Soft Tissue Infection
Soft Tissue Infection 		group Infections Disease or Syndrome 38 0.100 None 1.000 48 2004 2020
CUI: C0004610
Disease: Bacteremia
Bacteremia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 233 7 0.100 None 0.926 27 2008 2020
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 13 0.800 definitive 1.000 19 13 2008 2020
CUI: C0037278
Disease: Skin Diseases, Infectious
Skin Diseases, Infectious 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 74 0.100 None 1.000 14 2004 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.100 None 1.000 11 2009 2020
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.100 None 1.000 10 2009 2019
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 1.000 10 2008 2019
CUI: C0038160
Disease: Staphylococcal Infections
Staphylococcal Infections 		group Infections Disease or Syndrome 37 5 0.080 None 1.000 8 2006 2018
CUI: C1142423
Disease: Bacteremia due to Staphylococcus aureus
Bacteremia due to Staphylococcus aureus 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 17 1 0.080 None 0.875 8 2017 2019
CUI: C0014121
Disease: Bacterial Endocarditis
Bacterial Endocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 68 9 0.070 None 0.857 7 2011 2017
CUI: C1541923
Disease: Infective endocarditis
Infective endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 62 9 0.070 None 0.857 7 2011 2017
CUI: C0014118
Disease: Endocarditis
Endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 56 0.060 None 1.000 6 2008 2019
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 121 14 0.050 None 1.000 5 2006 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.050 None 1.000 5 2008 2014
CUI: C0264515
Disease: Pneumonia, Necrotizing
Pneumonia, Necrotizing 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 3 0.050 None 1.000 5 2002 2020
CUI: C0000833
Disease: Abscess
Abscess 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1 0.040 None 1.000 4 2012 2017