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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 **5101 - 5125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	HIF1A	3091	Homo sapiens (human)	Alliance of Genome Resources
DOID:1724	duodenal ulcer Aliases: Curling Ulcer Curling's ulcers Stress Ulcer	ACO1 CFTR SLC11A2 STAT3 TFRC VEGFA	1080 48 4891 6774 7037 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110441	dilated cardiomyopathy 2B Aliases: CMD2B	GATAD1	57798	Homo sapiens (human)	Alliance of Genome Resources
DOID:13767	clonorchiasis Aliases: Oriental liver fluke disease	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:2994	germ cell cancer Aliases: malignant tumor of the germ cell	SNRPA SNRPB2	6626 6629	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	FGFR3 HRAS NRAS PIK3CA	2261 3265 4893 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CDC25A CDC25B SFN	2810 993 994	Homo sapiens (human)	Alliance of Genome Resources
DOID:4549	extraskeletal myxoid chondrosarcoma Aliases: Myxoid extraosseous chondrosarcoma extraosseous chondrosarcoma	NR4A3	8013	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABCB1 ADAM28 ADGRB1 AGER AKT1 ANXA1 ANXA2 AR AREG CCL5 CD44 CLU CRKL DLG1 EZH2 FOXC1 HIF1A HSD17B1 IL13 INHA JUP KIT MAP2K4 MET MMP13 NCOA4 NEFL NTRK3 PCNA RAD50 RUNX3 SOCS3 TMBIM6 UBR5 VEGFC WIF1 XRCC1	10111 10863 11197 1191 1399 1739 177 207 2146 2296 301 302 3091 3292 3596 3623 367 3728 374 3815 4233 4322 4747 4916 5111 51366 5243 575 6352 6416 7009 7424 7515 8031 864 9021 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081209	autosomal recessive intellectual developmental disorder 45	FBXO31	79791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	PSAP	5660	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111542	familial expansile osteolysis Aliases: FEO McCabe disease hereditary expansile polyostotic osteolytic dysplasia	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:900	hepatopulmonary syndrome	CX3CL1 EDN1 EDNRB NOS3 TNF VEGFA	1906 1910 4846 6376 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050840	cervical dystonia Aliases: spasmodic torticollis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:3326	purpura Aliases: Purpuric disorder	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	ACAP1 ACAP2 AKT1 AKT2 AKT3 ALK ARID1A ATM BRCA2 BUB3 CAND1 CAND2 CBX2 CBX4 CBX8 CCNE2 CD53 CDIPT CDS1 CDS2 CMPK1 CSF1R CTNNB1 CUX1 DDX17 DDX5 DEPDC5 DHDDS DLG1 DLL1 DLL4 DST DUT EAF1 EPAS1 FEN1 FGR FLT1 FLT3 FLT4 GNPNAT1 HACD1 HACD2 HCK HRAS HSP90AA1 HSP90AB1 IDH1 IDI1 ING3 IPO5 ITGA3 ITGA6 ITGA7 ITGB1 ITGB2 ITGB3 ITGB5 ITGB6 ITGB7 JUP KANK1 KANK2 KANK4 KDR KIT KRAS LATS1 LATS2 LIG1 LLGL1 LLGL2 LRRK2 LTK MACF1 MAP2K1 MAP2K2 MSH2 MTOR MVK MYC NFYA NIPBL NOP2 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NRAS NSDHL PGK1 PGK2 PGM3 PHC1 PHC2 PHC3 PIGZ PIK3CB PIK3CD PINX1 PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C POLD2 POLE PPP1CA PPP1CB PPP1CC PSMA1 PSMC2 PSMC5 PTEN RAB5A RAB5C RAF1 RB1 RBBP6 RBL2 RET RFT1 RING1 RNF2 SCRIB SETD2 SHMT1 SHMT2 SIN3A SIN3B SMARCA2 SMARCA4 SMARCC1 SMARCC2 SOD2 SQLE SRC SSRP1 STK4 SUMO1 TAOK1 TAOK2 TBX2 TBX3 TERT THG1L TOP1 TOP1MT TOP2A TOP2B TP53 TPI1 TRIP12 TSPAN10 TSPAN14 TSPAN17 TSPAN5 TTI1 TXNL4A TYMS UGP2 VBP1 YAP1 YARS1	10000 10098 1040 10413 10423 10521 10907 116447 120892 1436 1499 1523 163782 1655 1739 1854 1911 1912 201562 2034 207 208 2237 2268 23066 23189 2321 2322 2324 23309 23396 23499 23513 23527 238 2475 25836 25942 25959 26262 26524 28514 29072 3055 3265 3320 3326 3417 3422 3655 3675 3679 3688 3689 3690 3693 3694 3695 3728 3791 3815 3843 3845 3978 3993 3996 4058 4436 4598 4609 472 4800 4839 4851 4853 4854 4855 4893 50814 51727 5230 5232 5238 5291 5293 5305 5425 5426 54556 54567 54974 54984 5499 5500 5501 55832 5604 5605 5682 5701 5705 5728 57332 57551 5868 5878 5894 5925 5930 5934 5979 6015 6045 6470 6472 64841 6595 6597 6599 6601 6648 667 6713 6714 6749 675 6789 6909 6926 7015 7150 7153 7155 7157 7167 7298 7341 7360 7411 79837 79947 80012 80235 81619 8289 83882 8394 8395 8396 84733 8535 85403 8565 8760 9113 9134 9184 91869 9200 9320 9344 963 9675 9681 9744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081443	Stolerman neurodevelopmental syndrome	KDM6B	23135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110573	autosomal dominant nonsyndromic deafness 4A Aliases: DFNA4A autosomal dominant deafness 4A	CEACAM16 MYH14	388551 79784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	LARGE1	9215	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1 Aliases: AIMAH1	GNAS	2778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050465	Muir-Torre syndrome	MLH1 MSH2	4292 4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081226	autosomal recessive intellectual developmental disorder 65	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources

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