Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1846674
Disease: Thigh hypertrophy
Thigh hypertrophy 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		0.110 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker HPO