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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 **5901 - 5925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	DIAPH1	1729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	LRP1	4035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ATN1 RERE	1822 473	Homo sapiens (human)	Alliance of Genome Resources
DOID:2843	long QT syndrome Aliases: LQT long Q-T syndrome	ANK2 ARHGAP36 KCNE1 KCNE2 KCNH2 KCNH6 KCNH7 KCNQ1 KCNQ2 KCNQ3 KCNQ5 SCN5A	158763 287 3753 3757 3784 3785 3786 56479 6331 81033 90134 9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110993	Joubert syndrome 24 Aliases: JBTS24	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:12678	hypercalcemia	CASR CYP24A1 PTH1R SLC34A1	1591 5745 6569 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	NOSIP PGAP1 PIGN PLCH1 PTCH1 SHH TGIF1 ZIC4	23007 23556 51070 5727 6469 7050 80055 84107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ACVR1 ADIPOQ ADRB2 APOE BDNF COL6A3 CYP1B1 EDN1 ELN GLUL LAMB2 LOXL1 MBL2 MMP1 MMP9 MYOC NOS3 OGG1 OPA1 OPTN PON1 SOD2 THBS1 TLR4 TNF TP53 WDR36	10133 1293 134430 154 1545 1906 2006 2752 348 3913 4016 4153 4312 4318 4653 4846 4968 4976 5444 627 6648 7057 7099 7124 7157 90 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:1059	intellectual disability	ACSL4 AGTR2 ANK2 ARHGEF6 ATF7IP2 ATF7IP ATP6V0C ATRX BOD1 BOD1L1 BORCS8-MEF2B CAPN3 CASR CC2D1A CC2D2A CDK13 CDKL5 CHKB CNTNAP2 CUL4B DMD DRD4 DYRK1A EIF4A3 ELP2 GATAD2A GATAD2B GPI GPM6A GPM6B HIVEP2 HPN IL1RAPL1 IMPA1 IRS1 IRS2 IRS4 ITGA2B ITGA5 ITGA8 ITGAV ITSN2 KANSL1 KDM5B KRAS MEF2A MEF2B MEF2C MEF2D NAA15 NAA16 NDST1 NDST2 NDST3 NDST4 NONO NSUN2 PLP1 POGZ PRSS12 PSMB1 PUS7 RB1 RBL2 RPGRIP1L RPS6KA3 RYK SARS1 SFN SLC6A8 SMC3 TSC1 UBE3A UBR4 WDR62 YWHAQ YWHAZ ZC3H14 ZNF280B ZNF280D	100271849 10765 10971 11141 1120 140883 1756 1815 1859 186 2182 23126 23322 23352 259282 26047 2810 2821 2823 2824 284058 284403 287 3097 3249 3340 3612 3667 3674 3678 3685 3845 4205 4207 4208 4209 4841 50618 527 5354 54517 546 54815 54816 54862 54888 55250 55729 5689 57459 57545 5925 5934 6197 6259 6301 64579 6535 6792 7248 7337 7534 79612 79882 80063 80155 825 8450 846 8471 8492 8509 8516 8621 8660 9126 91272 9348 9459 9775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081360	spastic quadriplegic cerebral palsy 2	KANK1	23189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	ST3GAL3	6487	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112232	lissencephaly 3 Aliases: LIS3	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1L	23171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080822	aspirin-induced respiratory disease Aliases: aspirin-sensitive asthma	CCR3 CYSLTR2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-DRB3 HLA-DRB4 IL4 PTGS2 TBXA2R	1232 3117 3119 3123 3125 3126 3565 57105 5743 6915	Homo sapiens (human)	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	ABCB1 CCL2 EPOR G6PD GABRA1 GABRB1 GABRG2 GC GLUD1 GLUD2 GRIA1 HIF1A INSR NOS1 NOS2 PTGS1	2057 2539 2554 2560 2566 2638 2746 2747 2890 3091 3643 4842 4843 5243 5742 6347	Homo sapiens (human)	Alliance of Genome Resources
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	IGF1R IGF2	3480 3481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	ANXA7 ATR CD40 CD79B CTLA4 FCGR2A GPX1 ICAM1 IGF2R KMT2A MALT1 MTSS1 PON1 PRF1 S1PR2 TMEM260	10892 1493 2212 2876 310 3383 3482 4297 5444 545 54916 5551 9294 958 974 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:6457	Cowden syndrome Aliases: Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:3883	Lynch syndrome Aliases: COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm	ACVR2A CA12 CA9 E2F4 KRAS MARCKS MLH1 MRE11 MSH2 MSH6 PMS1 RNASEL RNASET2 SLC22A9 SMAD4 TCF4 TGFBR1 TGFBR2	114571 1874 2956 3845 4082 4089 4292 4361 4436 5378 6041 6925 7046 7048 768 771 8635 92	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060242	synpolydactyly Aliases: syndactyly type 2	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	BLM	641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	FGF8	2253	Homo sapiens (human)	Alliance of Genome Resources

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