RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
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: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1861519
Disease: Moderately short stature
Moderately short stature
phenotype Finding 5 0.100 None 0
Abnormal facility in opposing the shoulders
phenotype Finding 1 0.100 None 0
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal
phenotype Finding 10 3 0.100 None 0
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail
phenotype Finding 18 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss
phenotype Stomatognathic Diseases Finding 25 0.100 None 0
Short middle phalanx of the 5th finger
phenotype Finding 17 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C1859682
Disease: Hypoplastic frontal sinuses
Hypoplastic frontal sinuses
phenotype Finding 7 0.100 None 0
Cone-shaped epiphyses of the phalanges of the hand
phenotype Finding 20 0.100 None 0
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria
phenotype Finding 27 0.100 None 0
CUI: C1861531
Disease: Long second metacarpal
Long second metacarpal
phenotype Finding 1 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing
disease Anatomical Abnormality 22 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 26 0.200 None 0
Increased susceptibility to fractures
phenotype Finding 42 5 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis
phenotype Finding 32 1 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 0