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: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C1850968
Disease: Median cleft palate
Median cleft palate
disease Congenital Abnormality 3 0.100 None 0
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base
phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth
phenotype Finding 22 2 0.100 None 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures
phenotype Finding 15 1 0.100 None 0
CUI: C0043352
Disease: Xerostomia
Xerostomia
disease Stomatognathic Diseases Finding 56 1 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 42 19 0.100 None 0 1
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum
phenotype Finding 3 0.100 None 0
CUI: C0150988
Disease: Sclerodactyly
Sclerodactyly
disease Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.100 None 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
phenotype Finding 21 5 0.100 None 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic
disease Neoplasms Neoplastic Process 43 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
Disproportionate short-limb short stature
phenotype Finding 35 5 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis
phenotype Finding 32 1 0.100 None 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality
phenotype Hemic and Lymphatic Diseases Finding 8 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.100 None 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia
phenotype Finding 4 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
Anterior rib punctate calcifications
phenotype Finding 1 0.100 None 0