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: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
0.400 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
Congenital muscular dystrophy (disorder)
0.200 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.130 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.120 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: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
0.110 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
0.110 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: C0003119
Disease: Anophthalmos
Anophthalmos
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0009024
Disease: Clonus
Clonus
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Congenital ocular coloboma (disorder)
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.100 Biomarker HPO

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
0.100 Biomarker HPO