Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.950 Biomarker MGD

Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		0.950 Biomarker MGD

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.950 Biomarker MGD

Entrez Id: 1634
Gene Symbol: DCN
DCN
CUI: C1864738
Disease: Corneal Dystrophy, Congenital Stromal
Corneal Dystrophy, Congenital Stromal 		0.950 Biomarker MGD

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		0.950 Biomarker MGD

Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C3554415
Disease: Distal arthrogryposis type 5D
Distal arthrogryposis type 5D 		0.950 Biomarker MGD

Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker MGD

Entrez Id: 1352
Gene Symbol: COX10
COX10
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.940 Biomarker MGD

Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		0.940 Biomarker MGD

Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A
CUI: C1856728
Disease: Fuhrmann syndrome
Fuhrmann syndrome 		0.940 Biomarker MGD

Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 		0.930 Biomarker MGD

Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 Biomarker MGD

Entrez Id: 9742
Gene Symbol: IFT140
IFT140
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease 		0.930 Biomarker MGD

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		0.920 Biomarker MGD

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.920 Biomarker MGD

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.910 Biomarker MGD

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		0.910 Biomarker MGD

Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		0.910 Biomarker MGD

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 Biomarker MGD

Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.900 Biomarker MGD

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 Biomarker MGD

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 Biomarker MGD

Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 Biomarker MGD

Entrez Id: 7253
Gene Symbol: TSHR
TSHR
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.900 Biomarker MGD

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.900 Biomarker MGD