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: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 moderate 1.000 0 0 2001 2001
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.400 None 1.000 0 0 2003 2018
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease 0.200 None 1.000 0 0 2001 2018
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.150 None 1.000 0 0 2004 2019
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.130 None 1.000 0 0 2009 2014
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.130 None 1.000 0 0 2003 2005
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.120 None 1.000 0 0 2005 2008
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		phenotype 0.110 None 1.000 0 0 2009 2009
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: 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: 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: 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