GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5451 - 5475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	AZGP1 BCOR BRCA1 ERBB2 ERBB3 ERBB4 FGFR2 GRB7 KDM4C KMT2C KRAS MDC1 MMP1 MMP2 MMP9 MRE11 MUTYH PARP1 RNF43 SLC3A2 SPARC SPINT1 TNFAIP3 XPO1 XRCC1	142 2064 2065 2066 2263 23081 2886 3845 4312 4313 4318 4361 4595 54880 54894 563 58508 6520 6678 6692 672 7128 7514 7515 9656	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 PROC	2153 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	MEI1	150365	Homo sapiens (human)	Alliance of Genome Resources
DOID:255	hemangioma	MMP2 SLC2A1	4313 6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	ABCA4 BARD1 BAX BDNF C3 CARD9 CFB CFH CLU CS DMD EYS FCGR1A HDAC4 HGF INHBA KCNH8 LCN2 MERTK NOS3 OTX1 OTX2 PARK7 PDE6B PDHA1 PDHA2 PKD2 PLCB4 PROM1 PROM2 PRPH2 PTPRC RAB6A SERPINF1 SH3RF1 TFPI2 VDAC1 VDAC2 VDAC3	10461 11315 1191 131096 1431 150696 1756 2209 24 3075 3082 346007 3624 3934 4846 5013 5015 5158 5160 5161 5176 5311 5332 57630 5788 580 581 5870 5961 627 629 64170 718 7416 7417 7419 7980 8842 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:1754	mitral valve stenosis Aliases: Mitral stenosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050987	hypomyelinating leukoencephalopathy	KARS1 VPS11	3735 55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	AHNAK B2M C9orf72 CD200 GPR132 HLA-DQA1 HLA-DQB1 HLA-DRB1 IDH1 NOD2 PARP1 SIAE	142 203228 29933 3117 3119 3123 3417 4345 54414 567 64127 79026	Homo sapiens (human)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	ARID1A BICRAL SMARCC1 SMARCC2 SMARCD1 SMARCD2	23506 6599 6601 6602 6603 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	ERGIC1	57222	Homo sapiens (human)	Alliance of Genome Resources
DOID:2475	chronic conjunctivitis	FAS LAMP2	355 3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	AGT AGTR1 BAX CCL2 CCL5 CD40LG CD80 CLU CSF1 CSF1R CTLA4 CX3CL1 FCGR3A HLA-DPB1 HLA-DRB1 IL10 IL17A IL1RN IL4 ITGA4 MAPK14 MIF MMP12 MMP14 NOS2 PDCD1 SELP SLIT2 SYK TNF	1191 1432 1435 1436 1493 183 185 2214 3115 3123 3557 3565 3586 3605 3676 4282 4321 4323 4843 5133 581 6347 6352 6376 6403 6850 7124 9353 941 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	CYP2U1	113612	Homo sapiens (human)	Alliance of Genome Resources
DOID:11249	vitamin K deficiency bleeding Aliases: deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease	GGCX	2677	Homo sapiens (human)	Alliance of Genome Resources
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	DOT1L	84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070302	multiple epiphyseal dysplasia 7 Aliases: EDM7	CANT1	124583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111892	Diamond-Blackfan anemia 11 Aliases: DBA11 RPL26-related Diamond-Blackfan anemia	RPL26	6154	Homo sapiens (human)	Alliance of Genome Resources
DOID:2859	hemoglobin C disease Aliases: Hb-C disease	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110065	amelogenesis imperfecta type 1F Aliases: AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF	AMBN	258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	SUPT16H	11198	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)	Alliance of Genome Resources

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