LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
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: C0242621
Disease: Isochromosomes
Isochromosomes 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2012 2012
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2017 2017
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0 1
CUI: C4020948
Disease: Palmar telangiectasia
Palmar telangiectasia 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4021241
Disease: Abnormal foot bone ossification
Abnormal foot bone ossification 		disease Musculoskeletal Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		disease Anatomical Abnormality 7 0.100 None 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 17 1 0.100 None 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
CUI: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		phenotype Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C4024661
Disease: Abnormality of the vertebral spinous processes
Abnormality of the vertebral spinous processes 		disease Anatomical Abnormality 2 1 0.100 None 0
CUI: C4024678
Disease: Punctate vertebral calcifications
Punctate vertebral calcifications 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4024689
Disease: Abnormality of the calcaneus
Abnormality of the calcaneus 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025309
Disease: Supernumerary vertebral ossification centers
Supernumerary vertebral ossification centers 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025362
Disease: Abnormality of the gastric mucosa
Abnormality of the gastric mucosa 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C4025815
Disease: Short diaphyses
Short diaphyses 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025863
Disease: Abnormality of the orbital region
Abnormality of the orbital region 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4023351
Disease: Hyposegmentation of neutrophil nuclei
Hyposegmentation of neutrophil nuclei 		phenotype Cell or Molecular Dysfunction 4 1 0.100 None 1.000 1 1 2016 2016
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 1979 1980
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.010 None 1.000 1 1989 1989
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.400 strong 1.000 1 2018 2018