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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 **5151 - 5175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:680	tauopathy	CD2AP ENAH EVL MAP4 MAPT SH3KBP1 SNRPB VASP	23607 30011 4134 4137 51466 55740 6628 7408	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070036	autosomal dominant intellectual developmental disorder 6 Aliases: MRD6 autosomal dominant mental retardation 6 autosomal dominant non-syndromic intellectual disability 6	GRIN2B	2904	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	55636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	GATAD2B	57459	Homo sapiens (human)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	PSAP PSAPL1 SLC7A3 SREBF1 SREBF2	5660 6720 6721 768239 84889	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070220	familial hyperinsulinemic hypoglycemia 5 Aliases: HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency	INSR	3643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060224	atrial fibrillation Aliases: A-fib AFib	ACE AGER AGT AGTR1 ANK2 CAND2 CD36 CD40 EDN1 FLT1 GP6 HGF HIF1A IL2 ITGAM KCNE1 KCNE2 KCNJ5 KCNQ1 MMP1 MMP2 MMP3 MMP9 RBM20 REN ROBO1 SLC8A1 SLIT2 SOD1 TFPI TGFB1 TLR2 TNF TTN VEGFA VWF	1636 177 183 185 1906 23066 2321 282996 287 3082 3091 3558 3684 3753 3762 3784 4312 4313 4314 4318 51206 5972 6091 6546 6647 7035 7040 7097 7124 7273 7422 7450 9353 948 958 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)	Alliance of Genome Resources
DOID:934	viral infectious disease Aliases: Viral Infection Viral disease virus infection	CCL7 CD46 CEBPB DOCK8 EHMT1 EHMT2 IL15	1051 10919 3600 4179 6354 79813 81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:9470	bacterial meningitis	ACHE BCHE BDNF CD46 CHI3L1 MMP9 NGF PARP1 TREM1	1116 142 4179 43 4318 4803 54210 590 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111441	optic atrophy 1 Aliases: OPA1	OPA1 WFS1	4976 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111275	speech-language disorder-1 Aliases: CAS articulatory apraxia childhood apraxia of speech developmental apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080986	Ehlers-Danlos syndrome periodontal type 1	C1R	715	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060601	alpha-2-plasmin inhibitor deficiency Aliases: antiplasmin defiency plasmin inhibitor deficiency	SERPINF2	5345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	FGF10 FGFR2	2255 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111952	immunodeficiency 57 Aliases: IMD57 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome immunodeficiency 57 with autoinflammation	RIPK1	8737	Homo sapiens (human)	Alliance of Genome Resources
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	FGR HCK SF3B2 SRC	10992 2268 3055 6714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060805	Prieto syndrome Aliases: Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	WNK3	65267	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:11054	urinary bladder cancer Aliases: bladder cancer tumor of the bladder	AKT1 ALOX12 AMACR APEX1 AREG BAX BRCA1 CA9 CASP9 CD44 CD82 CD9 CDC25A CDC25B CDH13 CDH1 CDKN1B CHEK2 COL6A3 COMT CTNNA1 CTNNB1 CTSB CXCR2 CYP1A1 CYP1B1 CYP2C9 DNMT1 E2F1 EEF1E1 EGFR ENO2 ERBB2 ERBB3 ERBB4 EZH2 F2 FAS FASLG FGFR2 FGFR3 FN1 HK1 HRAS HSPA1A ICAM1 IFNG IGFBP3 IL1RN IL2 JUP KDM5B KDR KIT KRAS KRT5 MAP2K4 MDM2 MGMT MKI67 MLH1 MMP13 MMP1 MMP2 MMP9 MRE11 MSH2 MSH6 MTR MUC1 MUC5B MYC NCSTN NME1 NME2 NOS3 PHB1 PLAU PLK1 PPARG PRKCA PTEN PTGS2 RB1 RELA RHOA RUNX3 SERPINE1 SFN SLC11A1 SMAD4 SOD2 SPARC SPP1 TERT TFF1 TGFBR1 THBS1 TIMP3 TLR2 TMEFF2 TNFRSF10A TOP2A TP53 TYMP TYMS VEGFA VEGFC VEGFD WIF1 WNT7B XRCC1	1012 1027 10765 11197 11200 1293 1312 1495 1499 1508 1543 1545 1559 1786 1869 1890 1956 2026 2064 2065 2066 207 2146 2147 2261 2263 2277 2335 23385 23600 23671 239 2810 2956 3098 3265 328 3303 3383 3458 3486 355 3557 3558 356 3579 3728 3732 374 3791 3815 3845 3852 387 4089 4193 4255 4288 4292 4312 4313 4318 4322 4361 4436 4548 4582 4609 4830 4831 4846 5054 5245 5328 5347 5468 5578 5728 5743 581 5925 5970 6416 6556 6648 6678 6696 672 7015 7031 7046 7057 7078 7097 7153 7157 727897 7298 7422 7424 7477 7515 768 842 864 8797 928 9521 960 993 994 999	Homo sapiens (human)	Alliance of Genome Resources

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