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
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