Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		1.000 Biomarker MGD

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker MGD

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker MGD

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker MGD

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		1.000 Biomarker MGD

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		1.000 Biomarker MGD

Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		1.000 Biomarker MGD

Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		1.000 Biomarker MGD

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker MGD

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		1.000 Biomarker MGD

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 Biomarker MGD

Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		1.000 Biomarker MGD

Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 Biomarker MGD

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C1852093
Disease: Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 1 		1.000 Biomarker MGD

Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		1.000 Biomarker MGD

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		1.000 Biomarker MGD

Entrez Id: 83605
Gene Symbol: CCM2
CCM2
CUI: C1864041
Disease: CEREBRAL CAVERNOUS MALFORMATIONS 2
CEREBRAL CAVERNOUS MALFORMATIONS 2 		1.000 Biomarker MGD

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker MGD

Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker MGD

Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		1.000 Biomarker MGD

Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		1.000 Biomarker MGD

Entrez Id: 25953
Gene Symbol: PNKD
PNKD
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		1.000 Biomarker MGD

Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker MGD

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		0.980 Biomarker MGD

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		0.970 Biomarker MGD