LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
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: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 19 0.920 None 1.000 7 19 2002 2017
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 1 4 0.710 None 1.000 5 4 2003 2017
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 strong 1.000 4 4 2010 2017
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 3 0.700 None 1.000 3 3 2008 2017
CUI: C0037188
Disease: Sinoatrial Block
Sinoatrial Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 0.400 None 1.000 1 2005 2005
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome 		disease Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C4750858
Disease: LMNA-related cardiocutaneous progeria syndrome
LMNA-related cardiocutaneous progeria syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C1835380
Disease: Labial pseudohypertrophy
Labial pseudohypertrophy 		phenotype Finding 1 0.100 None 0
CUI: C1835389
Disease: Increased intramuscular fat
Increased intramuscular fat 		phenotype Finding 1 0.100 None 0
CUI: C2675074
Disease: Enlarged peripheral nerve
Enlarged peripheral nerve 		phenotype Finding 1 0.100 None 0
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
Progeria Syndrome, Childhood-Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.100 None 0 3
CUI: C4016241
Disease: HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL 		disease Finding 1 4 0.100 None 0 4
CUI: C4021684
Disease: Sclerosis of hand bone
Sclerosis of hand bone 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4022125
Disease: Aplasia of the phalanges of the 3rd toe
Aplasia of the phalanges of the 3rd toe 		phenotype Finding 1 0.100 None 0
CUI: C4023222
Disease: Abnormal electrophysiology of sinoatrial node origin
Abnormal electrophysiology of sinoatrial node origin 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C4025339
Disease: Abnormality of circulating leptin level
Abnormality of circulating leptin level 		phenotype Finding 1 0.100 None 0
CUI: C4025868
Disease: Increased facial adipose tissue
Increased facial adipose tissue 		phenotype Finding 1 0.100 None 0
CUI: C4229131
Disease: Distal acroosteolysis
Distal acroosteolysis 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4531142
Disease: Abnormal lymphocyte physiology
Abnormal lymphocyte physiology 		phenotype Cell or Molecular Dysfunction 1 0.100 None 0
CUI: C0426433
Disease: Pinched nasal tip
Pinched nasal tip 		phenotype Finding 2 0.100 None 0
CUI: C1862096
Disease: Aplasia of the middle phalanx of the hand
Aplasia of the middle phalanx of the hand 		phenotype Finding 2 0.100 None 0
CUI: C2931375
Disease: Temporomandibular ankylosis
Temporomandibular ankylosis 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4025213
Disease: Abnormality of complement system
Abnormality of complement system 		phenotype Pathologic Function 2 0.100 None 0
CUI: C4025739
Disease: Acroosteolysis of distal phalanges (feet)
Acroosteolysis of distal phalanges (feet) 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025850
Disease: Increased adipose tissue around the neck
Increased adipose tissue around the neck 		phenotype Finding 2 0.100 None 0