LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
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.
Dermatofibrosis lenticularis disseminata
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 11 3 0.800 None 0.917 12 2 1997 2019
CUI: C0029455
Disease: Osteopoikilosis (disorder)
Osteopoikilosis (disorder)
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 7 3 0.500 None 0.952 21 2 2004 2020
CUI: C3149695
Disease: Melorheostosis with Osteopoikilosis
Melorheostosis with Osteopoikilosis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.400 None 1.000 2 1 2004 2007
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
disease Disease or Syndrome 35 0.360 None 1.000 8 1997 2019
CUI: C0025239
Disease: Melorheostosis
Melorheostosis
disease Musculoskeletal Diseases Disease or Syndrome 4 2 0.360 limited 0.500 6 2 2004 2017
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.310 None 1.000 2 2007 2012
CUI: C2931505
Disease: Mixed sclerosing bone dystrophy
Mixed sclerosing bone dystrophy
disease Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 2 2004 2007
CUI: C1833699
Disease: Osteopoikilosis, Isolated
Osteopoikilosis, Isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 2 0.300 None 1.000 1 2 2016 2016
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.300 limited 1.000 1 1997 1997
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.130 None 0.667 3 1994 2009
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.120 None 0.500 2 2009 2009
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None < 0.001 1 2009 2009
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.110 None 1.000 1 2017 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.110 None 1.000 1 2017 2017
CUI: C0020492
Disease: Hyperostosis
Hyperostosis
disease Musculoskeletal Diseases Disease or Syndrome 50 3 0.110 None 1.000 1 2017 2017
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.100 None 1.000 1 1 2017 2017
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 111 16 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis
phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy
disease Disease or Syndrome 21 2 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule
phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C0334083
Disease: Connective tissue nevus, NOS
Connective tissue nevus, NOS
disease Neoplasms Neoplastic Process 6 1 0.100 None 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata
disease Neoplasms Neoplastic Process 38 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0