GSC, goosecoid homeobox, 145258

N. diseases: 61; N. variants: 3
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: C1865362
Disease: Scapulohumeral synostosis
Scapulohumeral synostosis 		phenotype Finding 1 0.100 None 0
CUI: C1865363
Disease: Delayed ossification of pubic rami
Delayed ossification of pubic rami 		phenotype Finding 1 0.100 None 0
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 		disease Musculoskeletal Diseases Disease or Syndrome 3 3 0.630 strong 1.000 4 3 1997 2013
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype Finding 18 0.100 None 0
CUI: C1832117
Disease: Short humerus
Short humerus 		phenotype Congenital Abnormality 24 0.100 None 0
CUI: C0266258
Disease: Congenital absence of liver
Congenital absence of liver 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 25 2 0.010 None 1.000 1 1996 1996
CUI: C1306341
Disease: Mental handicap
Mental handicap 		disease Mental or Behavioral Dysfunction 26 1 0.010 None 1.000 1 1999 1999
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 2 0.100 None 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 40 5 0.100 None 0
CUI: C3828416
Disease: Radiation Damage
Radiation Damage 		disease Wounds and Injuries Disease or Syndrome 44 0.010 None 1.000 1 2012 2012
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 3 0.010 None 1.000 1 1999 1999
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.010 None 1.000 1 1998 1998
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease Congenital Abnormality 57 6 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.010 None 1.000 1 2019 2019
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.310 strong 1.000 2 1997 2009
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 147 27 0.010 None 1.000 1 2019 2019
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 150 17 0.010 None 1.000 1 2019 2019
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0026034
Disease: Microstomia
Microstomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.010 None 1.000 1 2018 2018
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.010 None 1.000 1 2019 2019
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease Musculoskeletal Diseases Finding 210 32 0.100 None 0