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: C1861531
Disease: Long second metacarpal
Long second metacarpal 		phenotype Finding 1 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		phenotype Finding 10 0.100 None 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		phenotype Finding 14 2 0.100 None 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		phenotype Finding 5 2 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype Finding 18 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		phenotype Finding 6 0.100 None 0
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C0037199
Disease: Sinusitis
Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.100 None 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C1838416
Disease: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		phenotype Finding 9 1 0.100 None 0
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype Finding 32 4 0.100 None 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		phenotype Finding 7 1 0.100 None 0
CUI: C1861519
Disease: Moderately short stature
Moderately short stature 		phenotype Finding 5 0.100 None 0
CUI: C1861517
Disease: Abnormal facility in opposing the shoulders
Abnormal facility in opposing the shoulders 		phenotype Finding 1 0.100 None 0
CUI: C1861516
Disease: Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		phenotype Finding 10 3 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0