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: C3549874
Disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY 		disease Disease or Syndrome 1 1 0.630 None 1.000 4 1 2013 2018
CUI: C0686761
Disease: Lack of bone formation
Lack of bone formation 		disease Anatomical Abnormality 1 0.020 None 1.000 2 2001 2007
CUI: C1834969
Disease: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.320 None 1.000 2 2013 2015
CUI: C0243057
Disease: Stomatognathic System Abnormalities
Stomatognathic System Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2010 2010
CUI: C0266878
Disease: External resorption of tooth
External resorption of tooth 		disease Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
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: 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: C1861517
Disease: Abnormal facility in opposing the shoulders
Abnormal facility in opposing the shoulders 		phenotype Finding 1 0.100 None 0
CUI: C1861531
Disease: Long second metacarpal
Long second metacarpal 		phenotype Finding 1 0.100 None 0
CUI: C4016655
Disease: CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS
CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS 		disease Finding 1 1 0.100 None 0 1
CUI: C1857131
Disease: Absent paranasal sinuses
Absent paranasal sinuses 		phenotype Finding 2 0.100 None 0
CUI: C1404521
Disease: Limb-girdle myopathy
Limb-girdle myopathy 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1837078
Disease: Hypoplastic inferior ilia
Hypoplastic inferior ilia 		phenotype Finding 3 0.100 None 0
CUI: C1866710
Disease: Delayed pubic bone ossification
Delayed pubic bone ossification 		phenotype Finding 3 0.100 None 0
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 5 0.010 None 1.000 1 2000 2000
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 2011 2011
CUI: C4021435
Disease: Short middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		phenotype Finding 5 2 0.100 None 0
CUI: C1857190
Disease: Wide pubic symphysis
Wide pubic symphysis 		phenotype Finding 5 0.100 None 0
CUI: C1861519
Disease: Moderately short stature
Moderately short stature 		phenotype Finding 5 0.100 None 0
CUI: C0740421
Disease: Postsurgical menopause
Postsurgical menopause 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 2 0.010 None 1.000 1 2015 2015
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
SINGLETON-MERTEN SYNDROME 2 		disease Disease or Syndrome 6 2 0.010 None 1.000 1 2018 2018
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		phenotype Finding 6 0.100 None 0
CUI: C4023457
Disease: Short face
Short face 		phenotype Anatomical Abnormality 6 0.100 None 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 2 0.010 None 1.000 1 2010 2010