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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 **5051 - 5075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	ADRA2A CCK CHRFAM7A CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNB3 CHRNB4 COMT CREB1 CYP2B6 DRD2 DRD3 FIGNL1 FOS GABBR1 GABBR2 GRIN2B HTR1A HTR1B HTR2A HTR2C HTR3A LCP1 NCAM1 NPY1R OPRM1 PLCB4 POMC RPTOR SLC6A3 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7	1136 1137 1138 1139 1142 1143 1312 1385 150 1555 1813 1814 2353 2550 2904 3350 3351 3356 3358 3359 3936 4684 4886 4988 5332 5443 57113 57521 63979 6531 7222 7223 7224 7225 885 8973 89832 9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070484	Legius syndrome Aliases: LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome	SPRED1	161742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111428	essential tremor 1 Aliases: ETM1 hereditary essential tremor 1	DRD3	1814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112202	developmental and epileptic encephalopathy	DEPDC5 DNM1 DNM2 KCNH5 KCNQ2 KCNQ3 KCNQ5 SLC32A1 STXBP1 STXBP2 SV2A	140679 1759 1785 27133 3785 3786 56479 6812 6813 9681 9900	Homo sapiens (human)	Alliance of Genome Resources
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	JUP KRT10 KRT1	3728 3848 3858	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:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	AKAP12 BRCA2 CBL CDC5L CHEK2 CXCR4 DDR1 E2F1 EFEMP2 EGR1 EZH2 HSD17B10 IL3 MSH2 MSH6 PTPRB RB1 SERPINF1 TP53	11200 1869 1958 2146 2956 30008 3028 3562 4436 5176 5787 5925 675 7157 780 7852 867 9590 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	DRD2 F3 FSHR IL6 KDR NR1H3 SERPINF1 TFPI VEGFA	10062 1813 2152 2492 3569 3791 5176 7035 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:9649	congenital nystagmus	AHR MYO7A ROBO1	196 4647 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	HIF1A	3091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	SLC18A3	6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080954	arthrogryposis multiplex congenita	SYNE1 VPS33B	23345 26276	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:4549	extraskeletal myxoid chondrosarcoma Aliases: Myxoid extraosseous chondrosarcoma extraosseous chondrosarcoma	NR4A3	8013	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

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