GBE1, 1,4-alpha-glucan branching enzyme 1, 2632

N. diseases: 11; N. variants: 25
Source: CLINVAR ×
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: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 20 1.000 None 1.000 25 19 1996 2017
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.800 None 1.000 0 4 1998 2018
CUI: C1856305
Disease: GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.400 None 0 1
CUI: C1856304
Disease: GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 6 0.400 None 0 6
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 8 0.100 None 1.000 18 8 1996 2016
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype Finding 12 15 0.100 None 1.000 1 1 2020 2020
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 25 0.100 None 1.000 1 1 2020 2020
CUI: C4017114
Disease: GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4017116
Disease: GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4017117
Disease: GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		disease Finding 1 5 0.100 None 0 5