TCOF1, treacle ribosome biogenesis factor 1, 6949

N. diseases: 138; N. variants: 30
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: C0265241
Disease: Franceschetti-Klein syndrome
Franceschetti-Klein syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.300 definitive 1.000 7 1996 2019
CUI: C0264402
Disease: Gas bubble disease
Gas bubble disease 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4024295
Disease: Hypoplasia of the pharynx
Hypoplasia of the pharynx 		phenotype Finding 1 0.100 None 0
CUI: C4025880
Disease: Abnormal parotid gland morphology
Abnormal parotid gland morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0154286
Disease: Iron deficiency anemia secondary to chronic blood loss
Iron deficiency anemia secondary to chronic blood loss 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1835148
Disease: Sparse lower eyelashes
Sparse lower eyelashes 		phenotype Finding 3 0.100 None 0
CUI: C1837826
Disease: Coloboma of inferior eyelid
Coloboma of inferior eyelid 		phenotype Disease or Syndrome 4 0.100 None 0
CUI: C0546952
Disease: Congenital facial asymmetry
Congenital facial asymmetry 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.010 None 1.000 1 2012 2012
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		phenotype Disease or Syndrome 6 0.100 None 0
CUI: C4023457
Disease: Short face
Short face 		phenotype Anatomical Abnormality 6 0.100 None 0
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		phenotype Finding 7 2 0.100 None 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 8 0.100 None 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 3 0.010 None 1.000 1 2004 2004
CUI: C0432098
Disease: Cleft Soft Palate
Cleft Soft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 13 2 0.100 None 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.100 None 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		phenotype Finding 14 0.100 None 0
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 15 52 0.100 None 0 1
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C0685787
Disease: Cleft face
Cleft face 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.100 None 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		phenotype Anatomical Abnormality 24 5 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis 		disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 0