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: C4747922
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 		disease Disease or Syndrome 1 4 0.700 moderate 1.000 5 4 2003 2015
CUI: C0748397
Disease: Reynolds syndrome
Reynolds syndrome 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.710 strong 1.000 2 1 2010 2013
CUI: C1859120
Disease: Anterior rib punctate calcifications
Anterior rib punctate calcifications 		phenotype Finding 1 0.100 None 0
CUI: C1859121
Disease: Sternal punctate calcifications
Sternal punctate calcifications 		phenotype Finding 1 0.100 None 0
CUI: C1866048
Disease: Severe hydrops fetalis
Severe hydrops fetalis 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C3179244
Disease: Pseudo Pelger-Huet Anomaly
Pseudo Pelger-Huet Anomaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Finding 1 0.300 None 0
CUI: C4021245
Disease: Patchy variation in bone mineral density
Patchy variation in bone mineral density 		phenotype Finding 1 0.100 None 0
CUI: C4025815
Disease: Short diaphyses
Short diaphyses 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0001361
Disease: Acute tonsillitis
Acute tonsillitis 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2007 2007
CUI: C1696466
Disease: Hepatic calcification
Hepatic calcification 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1859158
Disease: Laryngeal calcification
Laryngeal calcification 		disease Disease or Syndrome 2 0.100 None 0
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: C2931048
Disease: HEM dysplasia
HEM dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 5 0.800 strong 0.933 15 5 1993 2019
CUI: C0158698
Disease: Congenital malformation of the urinary system
Congenital malformation of the urinary system 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 3 0.010 None 1.000 1 2019 2019
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea 		disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum 		phenotype Finding 3 0.100 None 0
CUI: C1850968
Disease: Median cleft palate
Median cleft palate 		disease Congenital Abnormality 3 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: C4023039
Disease: Rhizomelic leg shortening
Rhizomelic leg shortening 		phenotype Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C4024595
Disease: Abnormal ossification involving the femoral head and neck
Abnormal ossification involving the femoral head and neck 		phenotype Finding 3 0.100 None 0
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C2363280
Disease: Cervical auricle (disorder)
Cervical auricle (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 4 0.010 None 1.000 1 2018 2018