LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Source: BEFREE ×
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: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.530 None 1.000 3 2 2000 2018
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 0.920 None 1.000 2 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 0.710 None 1.000 1 2003 2017
CUI: C1720859
Disease: Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 1 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.510 None 1.000 1 2003 2009
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 2 0.200 None 0.938 15 2 2000 2016
CUI: C3266164
Disease: Dropped head syndrome
Dropped head syndrome 		disease Disease or Syndrome 3 1 0.030 None 1.000 3 2005 2017
CUI: C0271693
Disease: Acquired generalized lipodystrophy
Acquired generalized lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C0279942
Disease: Metastatic Childhood Soft Tissue Sarcoma
Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C0332601
Disease: Cushingoid facies
Cushingoid facies 		phenotype Endocrine System Diseases Sign or Symptom 3 0.010 None 1.000 1 2005 2005
CUI: C0334373
Disease: Intraductal papillary adenocarcinoma with invasion
Intraductal papillary adenocarcinoma with invasion 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 3 1 0.010 None 1.000 1 2009 2009
CUI: C4551514
Disease: Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytic Lymphohistiocytosis, Familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C4724394
Disease: Metastatic Soft Tissue Sarcoma
Metastatic Soft Tissue Sarcoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.400 None 1.000 15 4 2003 2020
CUI: C0012624
Disease: Discitis
Discitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0206602
Disease: Circovirus Infections
Circovirus Infections 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0346169
Disease: Ovarian Cystadenoma
Ovarian Cystadenoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2010 2010
CUI: C0423773
Disease: Scaly skin
Scaly skin 		phenotype Sign or Symptom 4 4 0.010 None 1.000 1 2 2014 2014
CUI: C1838539
Disease: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C3148763
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C3469529
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP M
FANCONI ANEMIA, COMPLEMENTATION GROUP M 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 0.130 None 1.000 3 2007 2010
CUI: C0021367
Disease: Mammary Ductal Carcinoma
Mammary Ductal Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5 0.010 None < 0.001 1 2000 2000
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		disease Musculoskeletal Diseases Disease or Syndrome 6 1 0.130 None 1.000 3 1 2006 2016
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2005 2005