PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
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: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		disease Disease or Syndrome 1 6 0.710 None 1.000 9 6 1996 2017
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		disease Disease or Syndrome 1 6 0.400 None 1.000 5 6 1996 2013
CUI: C4073207
Disease: Bilateral facial muscle weakness
Bilateral facial muscle weakness 		disease Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases; Stomatognathic Diseases Finding 1 0.100 None 0
CUI: C4477031
Disease: Axial muscle atrophy
Axial muscle atrophy 		phenotype Finding 1 0.100 None 0
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 9 0.900 None 1.000 8 7 1996 2013
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 9 0.730 None 1.000 8 9 1996 2013
CUI: C0406458
Disease: Diffuse alopecia
Diffuse alopecia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1851562
Disease: Skin fragility with non-scarring blistering
Skin fragility with non-scarring blistering 		phenotype Finding 2 1 0.100 None 0
CUI: C4024679
Disease: Onychogryposis of toenails
Onychogryposis of toenails 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4280686
Disease: Proximal upper limb muscle hypertrophy
Proximal upper limb muscle hypertrophy 		phenotype Finding 2 0.100 None 0
CUI: C0259799
Disease: Punctate keratitis
Punctate keratitis 		disease Eye Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1562761
Disease: Punctate epithelial keratitis
Punctate epithelial keratitis 		disease Eye Diseases Disease or Syndrome 3 0.100 None 0
CUI: C4025699
Disease: Abnormality of the stomach
Abnormality of the stomach 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 11 1.000 None 1.000 23 11 1996 2017
CUI: C1832926
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.040 None 1.000 4 1997 2016
CUI: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder 		phenotype Finding 4 0.100 None 0
CUI: C1274224
Disease: Inherited epidermolysis bullosa
Inherited epidermolysis bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 5 0.010 None 1.000 1 2003 2003
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
Elevated maternal serum alpha-fetoprotein 		phenotype Laboratory or Test Result 5 1 0.100 None 0
CUI: C0393934
Disease: Slow channel syndrome
Slow channel syndrome 		disease Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2011 2011
CUI: C4021730
Disease: Junctional split
Junctional split 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		disease Congenital Abnormality 6 2 0.100 None 0
CUI: C0266159
Disease: Pyloric Atresia
Pyloric Atresia 		disease Digestive System Diseases Congenital Abnormality 7 0.070 None 1.000 7 2005 2017
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 7 28 0.040 None 1.000 4 1 2005 2017
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 17 0.340 None 1.000 4 2005 2016
CUI: C1839653
Disease: Decreased cervical spine flexion due to contractures of posterior cervical muscles
Decreased cervical spine flexion due to contractures of posterior cervical muscles 		phenotype Finding 7 0.100 None 0