Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker CTD_human

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker CTD_human

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		1.000 Biomarker CTD_human

Entrez Id: 51684
Gene Symbol: SUFU
SUFU
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		1.000 Biomarker CTD_human

Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker CTD_human

Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		1.000 Biomarker CTD_human

Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker CTD_human

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		1.000 Biomarker CTD_human

Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		1.000 Biomarker CTD_human

Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
CUI: C0008029
Disease: Cherubism
Cherubism 		1.000 Biomarker CTD_human

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker CTD_human

Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CTD_human

Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0010691
Disease: Cystinuria
Cystinuria 		1.000 Biomarker CTD_human

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker CTD_human

Entrez Id: 5078
Gene Symbol: PAX4
PAX4
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker CTD_human

Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		1.000 Biomarker CTD_human

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		1.000 Biomarker CTD_human

Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		1.000 Biomarker CTD_human

Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		1.000 Biomarker CTD_human

Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 Biomarker CTD_human

Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		1.000 Biomarker CTD_human

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 Biomarker CTD_human

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		1.000 Biomarker CTD_human

Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		1.000 Biomarker CTD_human

Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 Biomarker CTD_human