SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
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: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.300 None 1.000 1 2018 2018
CUI: C0039981
Disease: Thoracic Neoplasms
Thoracic Neoplasms 		group Neoplasms Neoplastic Process 3 0.300 None 1.000 1 2015 2015
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.300 None 1.000 1 2018 2018
CUI: C0205944
Disease: Sarcoma, Epithelioid
Sarcoma, Epithelioid 		disease Neoplasms Neoplastic Process 66 0.300 None 1.000 1 2015 2015
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.300 None 1.000 1 2018 2018
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.300 None 1.000 1 2017 2017
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2016 2016
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.300 None 1.000 1 2018 2018
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.300 None 1.000 1 2018 2018
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2014 2014
CUI: C0750979
Disease: Primary malignant neoplasm of brain
Primary malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 2017 2017
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2014 2014
CUI: C0750977
Disease: Recurrent Brain Neoplasm
Recurrent Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 39 0.300 None 1.000 1 2017 2017
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2018 2018
CUI: C1835895
Disease: RETINITIS PIGMENTOSA 33 (disorder)
RETINITIS PIGMENTOSA 33 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 8 0.300 limited 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.200 None 0.850 20 2006 2020
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2013 2013
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 178 18 0.190 None 1.000 9 2006 2019
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.160 None 0.667 6 1 2008 2014
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 59 6 0.140 None 1.000 4 1 2006 2007
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.120 None 1.000 2 2013 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2017 2017
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.110 None 1.000 1 2018 2018
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.110 None 1.000 1 2009 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2017 2017