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: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1842162
Disease: Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		disease 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		phenotype 0.100 None 0 0
Entrez Id: 57449
Gene Symbol: PLEKHG5
PLEKHG5 		pleckstrin homology and RhoGEF domain containing G5 0.674 0.385 3.4E-06
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		phenotype 0.100 None 0 0