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.
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: 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: 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: C3495371
Disease: Juvenile elastoma
Juvenile elastoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C3149399
Disease: DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED
DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4024118
Disease: Complete duplication of the distal phalanges of the hand
Complete duplication of the distal phalanges of the hand 		disease Congenital Abnormality 1 0.100 None 0
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: C4024863
Disease: Diffuse skin atrophy
Diffuse skin atrophy 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 2 0.360 limited 0.500 6 2 2004 2017
CUI: C0334083
Disease: Connective tissue nevus, NOS
Connective tissue nevus, NOS 		disease Neoplasms Neoplastic Process 6 1 0.100 None 0
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: C0334524
Disease: Mixed Germ Cell Tumor
Mixed Germ Cell Tumor 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2020 2020
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		disease Anatomical Abnormality 8 2 0.100 None 0
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 80 0.020 None 1.000 2 2005 2014
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
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: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 20 33 0.010 None 1.000 1 2015 2015
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease Congenital Abnormality 20 1 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: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		phenotype Skin and Connective Tissue Diseases Finding 23 1 0.100 None 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		disease Anatomical Abnormality 26 1 0.100 None 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		disease Anatomical Abnormality 29 1 0.100 None 0
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality 32 51 0.010 None 1.000 1 2010 2010
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED 		disease Disease or Syndrome 35 0.360 None 1.000 8 1997 2019
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0