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: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.010 None < 0.001 1 2 2012 2012
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2019 2019
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.050 None 1.000 5 1 2000 2017
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		disease Musculoskeletal Diseases Anatomical Abnormality 36 0.020 None 1.000 2 2010 2018
CUI: C0019270
Disease: Hernia
Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.020 None 1.000 2 2017 2019
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2008 2012
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 1.000 1 1 2016 2016
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		disease Anatomical Abnormality 21 8 0.010 None 1.000 1 2009 2009
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		disease Anatomical Abnormality 9 2 0.100 None 1.000 1 1 2016 2016
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 19 1 0.010 None 1.000 1 2014 2014
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease Cardiovascular Diseases Anatomical Abnormality 39 15 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1844618
Disease: Aplasia/Hypoplastia of the eccrine sweat glands
Aplasia/Hypoplastia of the eccrine sweat glands 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0