EOMES, eomesodermin, 8320

N. diseases: 60; N. variants: 2
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
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 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 51 29 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.310 None 1.000 1 2016 2016
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding)
disease Mental Disorders Mental or Behavioral Dysfunction 75 5 0.300 None 1.000 1 2015 2015
Autoimmune Diseases of the Nervous System
group Immune System Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2016 2016
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic
disease Mental Disorders Mental or Behavioral Dysfunction 44 0.300 None 1.000 1 2015 2015
CUI: C0751872
Disease: Immune Disorders, Nervous System
Immune Disorders, Nervous System
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2016 2016
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.300 None 1.000 1 2016 2016
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.300 None 1.000 1 2015 2015
Gastro-enteropancreatic neuroendocrine tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 41 4 0.300 None 1.000 1 2018 2018
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.010 None 1.000 1 2003 2003
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2016 2016
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2003 2003
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None 1.000 1 2016 2016
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 144 9 0.010 None 1.000 1 2016 2016
Nasal Type Extranodal NK/T-Cell Lymphoma
disease Neoplasms Neoplastic Process 53 0.010 None 1.000 1 2011 2011
CUI: C4283841
Disease: ITK Deficiency
ITK Deficiency
disease Immune System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 10 6 0.010 None 1.000 1 2018 2018