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 0.514 0.586 6.3E-05
Congenital muscular dystrophy (disorder)
disease 0.700 strong 1.000 0 0 2002 2012
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.430 strong 1.000 0 0 2004 2005
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0086543
Disease: Cataract
Cataract
disease 0.400 limited 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease 0.400 1.000 0 0 2003 2017
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.400 strong 0 0 2004 2004
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.400 strong 0 0 2004 2011
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.140 1.000 0 0 2004 2016
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.130 1.000 0 0 2004 2005
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.120 0.500 0 0 2005 2008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease 0.120 1.000 0 0 2011 2015
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
disease 0.120 1.000 0 0 2004 2012
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
Restrictive deficit on pulmonary function testing
phenotype 0.110 1.000 0 0 2009 2009
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1838869
Disease: Proximal neurogenic muscle weakness
Proximal neurogenic muscle weakness
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1840305
Disease: Absent external auditory canals
Absent external auditory canals
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1846674
Disease: Thigh hypertrophy
Thigh hypertrophy
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1843392
Disease: Death in childhood
Death in childhood
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1849073
Disease: Fused vertebrae
Fused vertebrae
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation
phenotype 0.100 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
phenotype 0.100 0 0