NKX3-2, NK3 homeobox 2, 579

N. diseases: 31; N. variants: 4
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.
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.720 None 1.000 3 4 1997 2019
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.300 limited 1.000 1 1997 1997
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.100 None 1.000 1 1 2019 2019
CUI: C4025368
Disease: Pseudoepiphyses of hand bones
Pseudoepiphyses of hand bones
disease Anatomical Abnormality 1 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C1866710
Disease: Delayed pubic bone ossification
Delayed pubic bone ossification
phenotype Finding 3 0.100 None 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia
phenotype Finding 16 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen
phenotype Finding 25 2 0.100 None 0
CUI: C1833328
Disease: Enlarged epiphyses
Enlarged epiphyses
phenotype Finding 5 1 0.100 None 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype Finding 34 0.100 None 0
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.100 None 0
Hip joint varus deformity - observation
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 49 2 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae
disease Anatomical Abnormality 8 0.100 None 0
CUI: C4024222
Disease: Abnormality of the epididymis
Abnormality of the epididymis
disease Anatomical Abnormality 2 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
Disproportionate short-trunk short stature
phenotype Finding 19 2 0.100 None 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2017 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2017 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2015 2017