FRG1, FSHD region gene 1, 2483

N. diseases: 44; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.300 Biomarker disease CTD_human
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment 		0.100 Biomarker disease HPO
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		0.100 Biomarker disease HPO
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		0.100 Biomarker phenotype HPO
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.100 Biomarker disease HPO
CUI: C0231616
Disease: Beevor's sign
Beevor's sign 		0.100 Biomarker phenotype HPO
CUI: C0240953
Disease: Winged scapula
Winged scapula 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue 		0.100 Biomarker disease HPO
CUI: C0410192
Disease: Muscular Dystrophy, Scapulohumeral
Muscular Dystrophy, Scapulohumeral 		0.100 Biomarker disease HPO
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		0.100 Biomarker phenotype HPO
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.100 Biomarker phenotype HPO
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO