Source: CTD_human

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: 10329
Gene Symbol: RXYLT1
RXYLT1 		ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		disease 0.300 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1 		ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		disease 0.300 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1 		ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		disease 0.300 None 0 0
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7 		ATP binding cassette subfamily A member 7 0.644 0.577 2.1E-55
CUI: C1837149
Disease: Alzheimer Disease 9
Alzheimer Disease 9 		disease 0.300 None 0 0
Entrez Id: 10395
Gene Symbol: DLC1
DLC1 		DLC1 Rho GTPase activating protein 0.529 0.731 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group 0.300 None 0 0
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13 		homeobox B13 0.573 0.462 3.7E-08
CUI: C1970250
Disease: Prostate Cancer, Hereditary, 9
Prostate Cancer, Hereditary, 9 		disease 0.400 None 0 0
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5 		fibulin 5 0.546 0.692 1.00
CUI: C1837187
Disease: MACULAR DEGENERATION, AGE-RELATED, 3
MACULAR DEGENERATION, AGE-RELATED, 3 		disease 0.300 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		NOP56 ribonucleoprotein 0.663 0.538 0.62
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease 0.300 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		NOP56 ribonucleoprotein 0.663 0.538 0.62
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease 0.300 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		NOP56 ribonucleoprotein 0.663 0.538 0.62
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		disease 0.300 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		NOP56 ribonucleoprotein 0.663 0.538 0.62
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		disease 0.300 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		NOP56 ribonucleoprotein 0.663 0.538 0.62
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease 0.300 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		NOP56 ribonucleoprotein 0.663 0.538 0.62
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease 0.300 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		NOP56 ribonucleoprotein 0.663 0.538 0.62
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease 0.300 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease 0.300 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		disease 0.300 None 0 0
Entrez Id: 10661
Gene Symbol: KLF1
KLF1 		Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C0271933
Disease: Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type I 		disease 0.300 None 0 0
Entrez Id: 10661
Gene Symbol: KLF1
KLF1 		Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C0271934
Disease: Congenital dyserythropoietic anemia, type III
Congenital dyserythropoietic anemia, type III 		disease 0.300 None 0 0
Entrez Id: 10661
Gene Symbol: KLF1
KLF1 		Kruppel like factor 1 0.621 0.462 3.6E-04
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		disease 0.300 None 0 0
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		ceramide synthase 1 0.638 0.385 9.7E-02
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease 		disease 0.300 None 0 0
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		ceramide synthase 1 0.638 0.385 9.7E-02
CUI: C0751777
Disease: Familial Progressive Myoclonic Epilepsy
Familial Progressive Myoclonic Epilepsy 		disease 0.300 None 0 0
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		ceramide synthase 1 0.638 0.385 9.7E-02
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease 0.300 None 0 0
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		ceramide synthase 1 0.638 0.385 9.7E-02
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease 0.300 None 0 0
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		ceramide synthase 1 0.638 0.385 9.7E-02
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy 		disease 0.300 None 0 0
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		ceramide synthase 1 0.638 0.385 9.7E-02
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		disease 0.300 None 0 0