Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0521670
Disease: Cranial nerve compression
Cranial nerve compression 		0.100 Biomarker disease HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0869474
Disease: Dyscalculia
Dyscalculia 		0.100 Biomarker disease HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		0.100 Biomarker phenotype HPO
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		0.100 Biomarker disease HPO
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		0.100 Biomarker phenotype HPO
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		0.100 Biomarker phenotype HPO
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		0.100 Biomarker phenotype HPO
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		0.100 Biomarker phenotype HPO
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		0.100 Biomarker phenotype HPO
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		0.100 Biomarker phenotype HPO
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		0.100 Biomarker phenotype HPO
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.100 Biomarker disease HPO
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		0.100 Biomarker phenotype HPO
CUI: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology 		0.100 Biomarker phenotype HPO
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.100 Biomarker disease HPO
CUI: C4023052
Disease: Ubiquitin-positive cerebral inclusion bodies
Ubiquitin-positive cerebral inclusion bodies 		0.100 Biomarker phenotype HPO
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration 		0.100 Biomarker phenotype HPO