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: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1846674
Disease: Thigh hypertrophy
Thigh hypertrophy
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1843392
Disease: Death in childhood
Death in childhood
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy
disease 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1855285
Disease: Protruding ear
Protruding ear
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy
disease 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype 0.100 None 0 0