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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **26 - 50** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:9655	oral mucosa leukoplakia	NAT2 XRCC1	10 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:4404	occupational dermatitis Aliases: Occupational allergic contact dermatitis Occupational eczema	NAT2	10	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	ACTN2 CDH2 DES DSC2 DSG2 DSP LMNA PKP2 RYR2 TGFB3 TMEM43	1000 1674 1824 1829 1832 4000 5318 6262 7043 79188 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	ACVR2A AKT1 AKT3 ARID1A ATR BRCA1 BRD4 CALR CASP7 CHAF1A CRIPTO CYP24A1 HS3ST2 IL10 IL7R KDM3A LRP1B MAPK14 MRE11 MSH2 NCOA6 PPARG PRKAA1 PTPN13 RICTOR SLC7A5 SRC TGFBR2	10000 10036 1432 1591 207 23054 23476 253260 3575 3586 4361 4436 53353 545 5468 5562 55818 5783 6714 672 6997 7048 811 8140 8289 840 92 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	ABCB1 ABCG2 AKT3 APC ARNT C4A C4B CA9 CDH1 COMT CSF1R CTLA4 CYP1A1 ERBB2 FAS FLCN FTO HAVCR2 HLA-DRB1 HNF1A HOXB13 IL1RN IL2 IL4R JUP KDM4C KIT LTF MAP2K1 MET MMP1 MMP3 NR3C1 OGG1 PAK1 PBRM1 PDGFRB RELA SLC49A4 STAT3 TFE3 TGFB1 THRA TNF TNFRSF10A WIF1 XRCC1	10000 10481 11197 1312 1436 1493 1543 201163 2064 23081 2908 3123 324 355 3557 3558 3566 3728 3815 405 4057 4233 4312 4314 4968 5058 5159 5243 55193 5604 5970 6774 6927 7030 7040 7067 7124 720 721 7515 768 79068 84868 84925 8797 9429 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:2526	prostate adenocarcinoma	ADIPOQ AKT1 AKT2 AKT3 BIN1 CD9 GRB2 IGF1R IKBKB INSR MYC NCOA2 PIK3CB RAF1 STAT1	10000 10499 207 208 274 2885 3480 3551 3643 4609 5291 5894 6772 928 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ADGRB1 AKT3 DMBT1 EGF EZH2 FLT3LG IDH1 KDR MDM2 MGMT MMP9 NRAS PDGFB PDGFRB PGF PIK3CB PTPRB RB1 XRCC1	10000 1755 1950 2146 2323 3417 3791 4193 4255 4318 4893 5155 5159 5228 5291 575 5787 5925 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110399	retinitis pigmentosa 37 Aliases: RP37	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090059	enhanced S-cone syndrome	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	CACNA1S KCNE3	10008 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	KCNE3	10008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: HJMD hypotrichosis with cone-rod dystrophy	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111649	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Aliases: EEM syndrome EEMS ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050565	autosomal recessive nonsyndromic deafness	CDH23 CLRN2 GPR156 MINAR2 PKHD1L1 TMTC4	100127206 165829 64072 645104 84899 93035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112106	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Aliases: X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome	HDAC6	10013	Homo sapiens (human)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	A2M AGER APOC2 CCL1 CCL2 CCL7 CCR5 CD24 CD28 CD40 CD46 CD86 CIITA CLEC16A CTLA4 FAS FASLG GABRA3 GC H6PD HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB3 HSP90AB1 IFNB1 IFNG IL21R IL23R IL2RA IL4 IL4R IL6 IRF5 JAG1 KIF1B MBP MMP12 MMP9 MOG MPHOSPH9 NDUFS2 NECTIN2 NOTCH4 PDCD1 PHACTR2 PRF1 PTPRC RGMA SLC11A1 SPP1 TNF TNFRSF1A	100133941 10198 1234 149233 1493 177 182 2 23095 23274 2556 2638 3115 3117 3119 3122 3123 3125 3326 344 3456 3458 355 3559 356 3565 3566 3569 3663 4155 4179 4261 4318 4321 4340 4720 4855 50615 5133 5551 56963 5788 5819 6346 6347 6354 6556 6696 7124 7132 940 942 9563 958 9749	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	ASPM BUB1 KIF14 KNL1 LMNB1 LMNB2 NCAPD2 NCAPD3 PDCD6IP TRAPPC14 WDR62	10015 23310 259266 284403 4001 55262 57082 699 84823 9918 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:1588	thrombocytopenia	ACTB ANKRD26 CCL2 F7 FCGR2A FLI1 FYB1 GALE GNE IL10 ITGA2 ITGA2B ITGB3 MASTL MBL2 MPL MYH9 PTPRJ SRC THPO TNF	10020 2155 2212 22852 2313 2533 2582 3586 3673 3674 3690 4153 4352 4627 5795 60 6347 6714 7066 7124 84930	Homo sapiens (human)	Alliance of Genome Resources
DOID:3659	sialuria	GNE SLC17A5	10020 26503	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11119	Gilles de la Tourette syndrome Aliases: Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder	BAIAP2 DRD4 HCN4 SLITRK1	10021 10458 114798 1815	Homo sapiens (human)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	AGT ANK2 HCN4 SCN5A	10021 183 287 6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:1827	generalized epilepsy Aliases: idiopathic generalized epilepsy	HCN4 KCNMA1	10021 3778	Homo sapiens (human)	Alliance of Genome Resources

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