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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 **11001 - 11025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070005	Seckel syndrome 9 Aliases: SCKL9	TRAIP	10293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110566	autosomal dominant nonsyndromic deafness 40 Aliases: DFNA40 autosomal dominant deafness 40	CRYM	1428	Homo sapiens (human)	Alliance of Genome Resources
DOID:1849	cannabis dependence	ABCB1 ACHE COMT NRG1	1312 3084 43 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060365	mandibulofacial dysostosis with alopecia Aliases: MFDA	EDNRA	1909	Homo sapiens (human)	Alliance of Genome Resources
DOID:4001	ovarian carcinoma	AKT2 AMH BMP7 CABIN1 CASP6 CCR5 EDN1 HDAC3 IL13 KLK13 L1CAM MAP2K1 MAP2K6 MMP13 MUC16 NCOA4 NME2 PAK1 PRKCA PTK2 RHOA RHOC SIX1 TFF1 VEGFD	1234 1906 208 2277 23523 26085 268 3596 387 389 3897 4322 4831 5058 5578 5604 5608 5747 6495 655 7031 8031 839 8841 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	SLC1A1	6505	Homo sapiens (human)	Alliance of Genome Resources
DOID:12253	testicular lymphoma Aliases: lymphoma of the testis malignant lymphoma of testis	MYD88	4615	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080331	cold-induced sweating syndrome 3	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	CAST CFL1 CHUK COL1A2 CRHR2 CTSL CTSV DAG1 DMD GHR HSF1 HSP90AB1 IKBKB KRAS MSTN MTMR4 MTOR NEDD4 NR3C1 RELB RPS6KB1 SERPINE1 SGCA TFRC TGIF1 TIMM23 TRIM63	100287932 1072 1147 1278 1395 1514 1515 1605 1756 2475 2660 2690 2908 3297 3326 3551 3845 4734 5054 5971 6198 6442 7037 7050 831 84676 9110	Homo sapiens (human)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	ACE AGT GLA IL1A NAGA	1636 183 2717 3552 4668	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:403	mouth disease	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	IRF2BP1 IRF2BP2 IRF2BPL	26145 359948 64207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110994	Joubert syndrome 25 Aliases: JBTS25	CEP104	9731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110887	inflammatory bowel disease 12 Aliases: IBD12	GNAI2	2771	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly Aliases: Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type IIA	NEK1	4750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110683	congenital myasthenic syndrome 18 Aliases: CMS18	SNAP25	6616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:12449	aplastic anemia	CD40LG CD86 DKC1 FAS FLT3LG GATA2 HLA-DQA1 HLA-DQB1 IFNG KIT NBN PRF1 TERT TGFB1 THPO TNF	1736 2323 2624 3117 3119 3458 355 3815 4683 5551 7015 7040 7066 7124 942 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110574	autosomal dominant nonsyndromic deafness 4B Aliases: DFNA4B autosomal dominant deafness 4B	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD	6389 6390 6392	Homo sapiens (human)	Alliance of Genome Resources

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