NPR2, natriuretic peptide receptor 2, 4882

N. diseases: 122; 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: C1864364
Disease: Thoracolumbar interpediculate narrowness
Thoracolumbar interpediculate narrowness 		phenotype Finding 1 0.100 None 0
CUI: C4024856
Disease: Redundant skin on fingers
Redundant skin on fingers 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4014690
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 		disease Disease or Syndrome 2 5 0.710 None 1.000 7 5 2004 2019
CUI: C0426874
Disease: Trident hand
Trident hand 		phenotype Musculoskeletal Diseases Finding 2 2 0.100 None 0 2
CUI: C1864361
Disease: Lower thoracic kyphosis
Lower thoracic kyphosis 		phenotype Finding 2 1 0.100 None 0
CUI: C4225399
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 		disease Disease or Syndrome 3 6 0.600 strong 1.000 2 6 2013 2014
CUI: C4310709
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 		disease Disease or Syndrome 3 7 0.100 None 0 1
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		disease Musculoskeletal Diseases Disease or Syndrome 5 17 0.950 None 1.000 11 17 2004 2019
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 5 0.100 None 1.000 11 2004 2019
CUI: C1864365
Disease: Acromesomelia
Acromesomelia 		phenotype Finding 5 0.100 None 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx 		phenotype Finding 6 0.100 None 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal 		phenotype Finding 7 0.100 None 0
CUI: C1864375
Disease: Long hallux
Long hallux 		phenotype Finding 7 0.100 None 0
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 9 0.010 None 1.000 1 2015 2015
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 4 0.010 None 1.000 1 1 2012 2012
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		phenotype Finding 11 2 0.100 None 0
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 10 0.010 None 1.000 1 2018 2018
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		phenotype Finding 12 0.100 None 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		phenotype Finding 13 0.100 None 0
CUI: C0149887
Disease: Slipped Capital Femoral Epiphyses
Slipped Capital Femoral Epiphyses 		disease Musculoskeletal Diseases Disease or Syndrome 15 0.010 None 1.000 1 2014 2014
CUI: C1844906
Disease: Broad finger
Broad finger 		phenotype Finding 17 0.100 None 0
CUI: C1333295
Disease: Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type 		disease Neoplastic Process 18 0.010 None 1.000 1 2014 2014