GlyCosmos Portal

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

Displaying entries **10701 - 10725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050933	ovarian serous carcinoma	MAP2K4 NCAM1 PTEN	4684 5728 6416	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110521	autosomal recessive nonsyndromic deafness 70 Aliases: DFNB70 autosomal recessive deafness 70	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	HES1 NOTCH1 NOTCH2 NOTCH3 XRCC1	3280 4851 4853 4854 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	CADM2 FAS IFNB1 KDM1B MGMT MTR RB1 SERPINF1 SNCG	221656 253559 3456 355 4255 4548 5176 5925 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:61	mitral valve disease Aliases: Mitral RH valve dis. Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence	ACE	1636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110596	primary ciliary dyskinesia 21 Aliases: CILD21 primary ciliary dyskinesia 21 without situs inversus	DRC1	92749	Homo sapiens (human)	Alliance of Genome Resources
DOID:2697	renal adenoma Aliases: renal cell adenoma	ATP7B	540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111602	distal arthrogryposis type 2B3 Aliases: DA2B3 distal arthrogryposis type 2B3 (Sheldon-Hall)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:5199	ureteral obstruction	ABL1 ACE ADAMTS1 ADCY6 ADM AKT1 AVPR2 B2M CASP7 CASP9 CAT CCL11 CCN2 CFL1 COL1A1 COL1A2 CYP2J2 DRD1 EDN1 FN1 GFER HSD11B2 HSPA5 ICAM1 IFNG IL1RN IRF5 KEAP1 LUM MTOR NPPA PAK2 PARP1 PDGFB RELB SERPINE1 SKIL TNF TNFRSF1A TNFRSF1B	1072 112 1277 1278 133 142 1490 1573 1636 1812 1906 207 2335 2475 25 2671 3291 3309 3383 3458 3557 3663 4060 4878 5054 5062 5155 554 567 5971 6356 6498 7124 7132 7133 840 842 847 9510 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050920	tonsil squamous cell carcinoma	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060693	Brunner Syndrome Aliases: monoamine oxidase A deficiency	MAOA	4128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060295	complement component 2 deficiency	C2	717	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111800	syndromic microphthalmia 12 Aliases: MCOPS12 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects	RARB	5915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	AAAS	8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:1928	Williams-Beuren syndrome Aliases: Fanconi Schlesinger syndrome WBS	BAZ1B BUD23 CLIP2 EIF4H ELN FZD3 FZD9 GTF2I LIMK2 LOX NOP2 NSUN5 SRC	114049 2006 2969 3985 4015 4839 55695 6714 7458 7461 7976 8326 9031	Homo sapiens (human)	Alliance of Genome Resources
DOID:5016	hepatocellular clear cell carcinoma Aliases: Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type	IDH1 IDH2 LEP LEPR TERT	3417 3418 3952 3953 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:9649	congenital nystagmus	AHR MYO7A ROBO1	196 4647 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080202	adenoid cystic carcinoma	ATR KDM6A KMT2C NTRK3 SLC3A2 SLC7A5 TP53 XRN2	22803 4916 545 58508 6520 7157 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:13767	clonorchiasis Aliases: Oriental liver fluke disease	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:903	gastrointestinal lymphoma	KMT2D	8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	CACNA1A CACNA1B CACNA1E	773 774 777	Homo sapiens (human)	Alliance of Genome Resources
DOID:2367	neuroaxonal dystrophy	NAGA PLA2G6	4668 8398	Homo sapiens (human)	Alliance of Genome Resources

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