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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **11726 - 11750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2229	factor XI deficiency Aliases: Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency	F11	2160	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2 Aliases: AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2	MMP20	9313	Homo sapiens (human)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	RET	5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	HGF ICAM1 IL13 MMP1 TGFB1	3082 3383 3596 4312 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:13088	periventricular leukomalacia	MBP TNF	4155 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050956	spinocerebellar ataxia type 6	CACNA1A	773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111637	autosomal recessive nonsyndromic deafness 112 Aliases: DFNB112 autosomal recessive deafness 112	BDP1	55814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	GPR143 TYR	4935 7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	GH2 GHR GHRHR GHSR IGFALS TG	2689 2690 2692 2693 3483 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080582	hypotrichosis 14	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111646	congenital lactase deficiency Aliases: CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II	LCT	3938	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	NT5E TNFRSF11B	4907 4982	Homo sapiens (human)	Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	AGER AOC3 ARHGEF17 CCL2 CCN1 COL1A2 COL22A1 CTSB CTSK CTSS EDN1 ENG IL6 KLF5 KMT2D MMP12 MMP14 MMP2 MMP9 NOS3 PKD1 PKD2 TIMP1 TNF VCAN VEGFA VWF	1278 1462 1508 1513 1520 169044 177 1906 2022 3491 3569 4313 4318 4321 4323 4846 5310 5311 6347 688 7076 7124 7422 7450 8085 8639 9828	Homo sapiens (human)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	ABCB1 ABCG2 ADGRB1 AFP AGTR1 AGTR2 AKT1 AKT3 ALOX12 AMACR ANGPT1 ANXA1 ANXA2 APC ARNT BAD BIRC2 BMP4 BMP6 BMP7 BSG BTG2 C4A C4B CA9 CAD CD44 CD46 CDH1 CDKN1B COMT CSF1R CTLA4 CTNNA1 CTNNB1 CYP1A1 DLL4 EGFR EPAS1 ERBB2 ERBB4 FAS FGFR1 FLCN FLT1 FN1 FRS2 FTO HAVCR1 HAVCR2 HIF1A HLA-DRB1 HNF1A IGF1R IGFBP3 IGFBP7 IL1RN IL2 IL4R INSR JUN JUP KANK1 KCNH1 KDM4C KDM6A KDM6B KIT KLK6 KRAS LEP LNPEP LTF MAP2K1 MET MLH1 MMP1 MMP2 MMP3 MMP9 MSH2 MTOR MUC1 MYC NME1 NR3C1 NRP1 OGG1 PAK1 PBRM1 PCNA PDCD1 PDGFRA PDGFRB PDPN PFAS PGF PLAU PLD2 PPAT PTEN PTGS1 PTGS2 RB1 RELA SFRP1 SKP2 SLC49A4 SMAD4 SMARCC1 SPARC ST14 STAT3 TERT TFE3 TFRC TGFB1 THRA TIMP1 TIMP3 TLR9 TNF TNFRSF10A TNFRSF1A TNFRSF1B TP53 TSC2 TYMP VEGFA VEGFC VWF WIF1 WNT11 XIAP XRCC1	10000 1027 10630 10818 11197 1312 1436 1493 1495 1499 1543 174 185 186 1890 1956 201163 2034 2064 2066 207 2260 23081 23135 23189 2321 2335 23600 239 2475 26762 284 2908 301 302 3091 3123 324 329 331 3480 3486 3490 355 3557 3558 3566 3643 3725 3728 3756 3815 3845 3952 4012 405 4057 4089 4179 4233 4292 4312 4313 4314 4318 4436 4582 4609 4830 4968 5058 5111 5133 5156 5159 5198 5228 5243 5328 5338 54106 54567 5471 55193 5604 5653 572 5728 5742 5743 575 5925 5970 6422 6502 652 654 655 6599 6678 6768 6774 682 6927 7015 7030 7037 7040 7067 7076 7078 7124 7132 7133 7157 720 721 7249 7403 7422 7424 7450 7481 7515 768 7832 790 79068 84868 84925 8797 8829 9429 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	MAN2B1	4125	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050340	opportunistic bacterial infectious disease	NFKB1 NFKB2 SMARCA2 SMARCA4 SMARCC1 SMARCC2	4790 4791 6595 6597 6599 6601	Homo sapiens (human)	Alliance of Genome Resources
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GM2A	2760	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2 PER3 TIMELESS	8863 8864 8914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8 Aliases: SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050665	fetal alcohol syndrome	RHOA	387	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110927	nemaline myopathy 3 Aliases: NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070254	congenital disorder of glycosylation type IIb Aliases: CDG IIb CDG2B CDGIIb glucosidase I deficiency	MOGS	7841	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110819	hereditary spastic paraplegia 74 Aliases: SPG74 autosomal recessive spastic paraplegia 74	IBA57	200205	Homo sapiens (human)	Alliance of Genome Resources

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