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: 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: C2930868
Disease: Rasmussen subacute encephalitis
Rasmussen subacute encephalitis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 1 0.010 None < 0.001 1 2018 2018
CUI: C0393484
Disease: Rasmussen Syndrome
Rasmussen Syndrome 		disease Nervous System Diseases Disease or Syndrome 18 3 0.010 None < 0.001 1 2018 2018
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: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype Finding 18 1 0.100 None 0
CUI: C0085138
Disease: Choroid Plexus Neoplasms
Choroid Plexus Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 19 0.010 None 1.000 1 2017 2017
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		disease Eye Diseases Congenital Abnormality 19 1 0.010 None 1.000 1 2010 2010
CUI: C0393534
Disease: Paraneoplastic Cerebellar Degeneration
Paraneoplastic Cerebellar Degeneration 		disease Neoplasms; Nervous System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 3 0.100 None 0
CUI: C1332200
Disease: Adult Diffuse Astrocytoma
Adult Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2013 2013
CUI: C3899668
Disease: Childhood Diffuse Astrocytoma
Childhood Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 21 2 0.010 None 1.000 1 2013 2013
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia 		disease Neoplastic Process 22 0.020 None 1.000 2 2009 2010
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		phenotype Nervous System Diseases Sign or Symptom 22 1 0.010 None 1.000 1 2019 2019
CUI: C1336538
Disease: Supratentorial Embryonal Tumor, Not Otherwise Specified
Supratentorial Embryonal Tumor, Not Otherwise Specified 		disease Neoplasms; Nervous System Diseases Neoplastic Process 22 4 0.010 None 1.000 1 2010 2010
CUI: C4551722
Disease: Encephalocele
Encephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 23 7 0.010 None 1.000 1 2013 2013
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.010 None 1.000 1 2019 2019
CUI: C1704274
Disease: Intrauterine adhesions
Intrauterine adhesions 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 24 0.010 None 1.000 1 2017 2017
CUI: C0334520
Disease: Teratoma, Malignant
Teratoma, Malignant 		disease Neoplasms Neoplastic Process 25 0.010 None 1.000 1 2009 2009
CUI: C1332079
Disease: Anaplastic Large Cell Lymphoma, ALK-Positive
Anaplastic Large Cell Lymphoma, ALK-Positive 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.010 None 1.000 1 2018 2018
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 26 0.030 None 1.000 3 2012 2019
CUI: C1266005
Disease: Basaloid squamous cell carcinoma
Basaloid squamous cell carcinoma 		disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2018 2018
CUI: C0028879
Disease: Odontogenic Cysts
Odontogenic Cysts 		disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2018 2018
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease Neoplasms; Nervous System Diseases Congenital Abnormality 29 0.110 None 1.000 1 2018 2018