SOX11, SRY-box transcription factor 11, 6664

N. diseases: 246; N. variants: 8
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: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.660 None 0.833 6 2014 2019
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
disease Disease or Syndrome 1 5 0.600 None 1.000 2 5 2014 2016
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 193 0.300 None 1.000 1 2015 2015
Malignant neoplasm of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 91 0.300 None 1.000 1 2006 2006
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2006 2006
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 116 3 0.300 None 1.000 1 2006 2006
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.210 None 1.000 1 2016 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.120 None 1.000 2 2016 2018
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 0.120 None 1.000 2 2018 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2016 2016
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19 0.100 None 0.962 52 2008 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.970 33 2002 2019
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 296 9 0.100 None 0.933 30 2008 2020
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 3 1 2004 2016
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0 1
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges
phenotype Finding 53 2 0.100 None 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 3 0.100 None 0
CUI: C1845878
Disease: Irregularly spaced teeth
Irregularly spaced teeth
phenotype Finding 3 2 0.100 None 0 1
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0