SLC6A5, solute carrier family 6 member 5, 9152

N. diseases: 64; 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: C3553288
Disease: HYPEREKPLEXIA 3
HYPEREKPLEXIA 3 		disease Disease or Syndrome 1 11 0.800 None 1.000 5 11 2003 2019
CUI: C0232058
Disease: Apnea in the newborn
Apnea in the newborn 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2006 2006
CUI: C0477362
Disease: Other specified extrapyramidal and movement disorders
Other specified extrapyramidal and movement disorders 		disease Disease or Syndrome 2 0.200 None 1.000 1 2003 2003
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 23 0.300 strong 0
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.500 None 1.000 2 2003 2015
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		phenotype Nervous System Diseases Sign or Symptom 13 36 0.200 None 0.929 14 12 2006 2019
CUI: C0011430
Disease: Dentin Dysplasia
Dentin Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2008 2008
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		phenotype Finding 18 4 0.100 None 0
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 34 9 0.010 None 1.000 1 2016 2016
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.010 None 1.000 1 2008 2008
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 3 0.100 None 0
CUI: C1334011
Disease: High Grade Cervical Intraepithelial Neoplasia
High Grade Cervical Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 51 1 0.010 None 1.000 1 2002 2002
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.100 None 0
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.100 None 0
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 102 14 0.010 None 1.000 1 2018 2018
CUI: C0014868
Disease: Esophagitis
Esophagitis 		disease Digestive System Diseases Disease or Syndrome 105 7 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 204 25 0.040 None 1.000 4 2017 2019
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 236 10 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.420 None 1.000 3 2012 2015
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.020 None 1.000 2 2017 2018
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0