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: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		phenotype Pathologic Function 7 0.100 None 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		phenotype Cell or Molecular Dysfunction 4 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: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0
CUI: C3280303
Disease: Abnormal hair whorl
Abnormal hair whorl 		phenotype Finding 5 0.100 None 0
CUI: C4531142
Disease: Abnormal lymphocyte physiology
Abnormal lymphocyte physiology 		phenotype Cell or Molecular Dysfunction 1 0.100 None 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology 		disease Anatomical Abnormality 6 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: C4025213
Disease: Abnormality of complement system
Abnormality of complement system 		phenotype Pathologic Function 2 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C4023051
Disease: Abnormality of skeletal muscle fiber size
Abnormality of skeletal muscle fiber size 		phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon 		disease Musculoskeletal Diseases Anatomical Abnormality 8 0.100 None 0
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: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C4023577
Disease: Abnormality of the intrahepatic bile duct
Abnormality of the intrahepatic bile duct 		disease Anatomical Abnormality 10 2 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
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: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease Finding 64 0.100 None 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		phenotype Finding 24 0.100 None 0
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2008 2008
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		phenotype Finding 11 0.100 None 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C4022628
Disease: Absent muscle fiber emerin
Absent muscle fiber emerin 		phenotype Finding 6 0.100 None 0