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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 **3851 - 3875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111322	idiopathic generalized epilepsy 8 Aliases: EIG8	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:10579	leukodystrophy	AARS1 ACER3 CLCN2 EIF2S1 EIF2S2 EIF2S3 SDHA	1181 16 1965 1968 55331 6389 8894	Homo sapiens (human)	Alliance of Genome Resources
DOID:9182	pemphigus	CAST CAT CD36 CD40 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2 MBL2	3117 3119 3123 3558 4153 831 847 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	AP3B1 BDNF CCL2 CCR2 CCR5 CD28 CMA1 HGF IL1A IL1RN IL2 IL4R KIT MMP9 MPO MUC1 NGF NOS2 NR3C1 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TLR9	1215 1234 2908 3082 3552 3557 3558 3566 3815 4318 4353 4582 4803 4843 5054 54106 627 6347 6439 6440 6441 653509 7040 729230 8546 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:6193	epithelioid sarcoma Aliases: epithelioid cell sarcoma	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110365	retinitis pigmentosa 28 Aliases: RP28	FAM161A	84140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050744	anaplastic large cell lymphoma	IRF4 JUNB	3662 3726	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 PROC	2153 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:11612	polycystic ovary syndrome Aliases: Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary	ADIPOQ ADRA1A ADRA1B ADRA1D ADRB2 ADRB3 AKR1C3 AKT2 AMH AR ATP5F1B CAPN10 CD36 COMT CYP17A1 CYP19A1 CYP1A1 FST GPX3 HSD17B7 HSD3B1 HSD3B2 MMP2 NCOA2 NCOA4 NCOR1 NGFR NR3C1 NR3C2 PECAM1 PGR RARRES2 SERPINE1 VEGFA	10468 10499 11132 1312 146 147 148 154 1543 155 1586 1588 208 268 2878 2908 3283 3284 367 4306 4313 4804 5054 506 51478 5175 5241 5919 7422 8031 8644 9370 948 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	CRIM1 GDF6 HCCS LRP5 MAB21L1 MFRP MID1 RBM24 STAU2 TRPM3	221662 27067 3052 392255 4041 4081 4281 51232 80036 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)	Alliance of Genome Resources
DOID:12995	conduct disorder	AR DRD4 HTR1B	1815 3351 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080356	IgG4-related disease	LAT	27040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080944	familial Behcet-like autoinflammatory syndrome Aliases: A20 haploinsufficiency	TNFAIP3	7128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060251	sclerosteosis	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	HSPG2	3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:10223	dermatomyositis Aliases: Polymyositis with skin involvement dermatopolymyositis	AARS1 AARS2 ANGPTL2 CCR2 CD36 CD40 CD40LG CX3CL1 FAS HGF IFNG IL4 MBL2 MMP9 PMS1 ROBO1 SLIT2 STAT4 THBD TLR2 TLR4 TLR9	16 23452 3082 3458 355 3565 4153 4318 5378 54106 57505 6091 6376 6775 7056 7097 7099 729230 9353 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	BAP1 CHRNA7 EZH2 FMR1 FXR1 FXR2 IL7R KDM6A MLH1 NCOA2 SETD2 SLC7A5 SMO	10499 1139 2146 2332 29072 3575 4292 6608 7403 8087 8140 8314 9513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111644	autosomal recessive nonsyndromic deafness 110 Aliases: DFNB110 autosomal recessive deafness 110	COCH	1690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources

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