Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.140 None 1.000 0 0 2013 2019
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 0 0 2015 2017
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		disease 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0560346
Disease: Difficulty running
Difficulty running 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype 0.100 None 0 0