SOX4, SRY-box transcription factor 4, 6659

N. diseases: 246; N. variants: 1
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: C0004044
Disease: Asphyxia
Asphyxia 		phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 3 0.200 None 1.000 1 2002 2002
CUI: C4225202
Disease: LAMB-SHAFFER SYNDROME
LAMB-SHAFFER SYNDROME 		disease Disease or Syndrome 5 7 0.010 None 1.000 1 2019 2019
CUI: C4022120
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 		phenotype Finding 10 0.100 None 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype Finding 11 6 0.100 None 1.000 1 1 2019 2019
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		disease Anatomical Abnormality 11 3 0.100 None 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		disease Anatomical Abnormality 12 4 0.100 None 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 20 1 0.100 None 0
CUI: C1737225
Disease: Mesangioproliferative glomerulonephritis
Mesangioproliferative glomerulonephritis 		disease Disease or Syndrome 21 0.010 None 1.000 1 2018 2018
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C1704376
Disease: Uterine Corpus Carcinosarcoma
Uterine Corpus Carcinosarcoma 		disease Neoplastic Process 33 0.010 None 1.000 1 2016 2016
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		phenotype Finding 35 1 0.100 None 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.100 None 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease Anatomical Abnormality 40 3 0.100 None 0
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 41 80 0.010 None 1.000 1 2016 2016
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 1.000 1 1 2019 2019
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.100 None 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		disease Anatomical Abnormality 42 0.100 None 0
CUI: C0031212
Disease: Personality Disorders
Personality Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 49 8 0.010 None 1.000 1 2019 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality 49 77 0.010 None 1.000 1 2014 2014
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		disease Neoplasms Neoplastic Process 54 1 0.010 None 1.000 1 2002 2002
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 0.300 None 1.000 1 2019 2019
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype Finding 65 1 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 1.000 1 1 2019 2019