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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 **5201 - 5225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070111	Niemann-Pick disease type A	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112148	Uruguay faciocardiomusculoskeletal syndrome Aliases: FCMSU	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	BRINP3 CCL2 CCR2 COL1A1 CTSC IL10 IL1R2 IL2 IL6 POSTN PPIA	10631 1075 1277 339479 3558 3569 3586 5478 6347 729230 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110819	hereditary spastic paraplegia 74 Aliases: SPG74 autosomal recessive spastic paraplegia 74	IBA57	200205	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050718	vitamin metabolic disorder	SLC5A12 SLC5A5 SLC5A6 SLC5A8	159963 160728 6528 8884	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:3376	bone osteosarcoma Aliases: Osteosarcoma of bone primary Osteosarcoma of bone	EFEMP2	30008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050965	spinocerebellar ataxia type 15 Aliases: spinocerebellar ataxia type 16	ITPR1	3708	Homo sapiens (human)	Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ICAM1 IL6 KEAP1 MTOR	2475 3383 3569 9817	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:0050856	oppositional defiant disorder	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112311	male infertility due to acephalic spermatozoa	CNTROB	116840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060180	colitis	ADIPOQ ADRB3 ANXA1 APOA4 ARRB1 BMP6 CAT CCKBR CCL2 CCR1 CD40 CHUK CRHR2 CXCR2 HAVCR1 HLA-B HP HPR ICAM1 ICOS IKBKB IL10 IL17A KDR LCT MIF MSH2 MUC2 NOD2 NOS2 NOS3 NTRK1 NTRK2 PPARGC1A PTGS2 RELA SELL SELP SI TACR1 TACR2 TFF1 TLR3 TLR4 VCAM1	10891 1147 1230 1395 155 26762 29851 301 3106 3240 3250 337 3383 3551 3579 3586 3605 3791 3938 408 4282 4436 4583 4843 4846 4914 4915 5743 5970 6347 6402 6403 64127 6476 654 6865 6869 7031 7098 7099 7412 847 887 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080679	neuronal intestinal dysplasia type A	ERBB3	2065	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070058	Helsmoortel-Van Der Aa Syndrome Aliases: HVDAS MRD28 autosomal dominant mental retardation 28	ADNP	23394	Homo sapiens (human)	Alliance of Genome Resources
DOID:1761	Melkersson-Rosenthal syndrome Aliases: Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Melkersson's syndrome	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	POGZ	23126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly Aliases: SRPS5 SRTD7 short rib-polydactyly syndrome type V	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080836	growth hormone insensitivity syndrome with immune dysregulation 1	STAT5A STAT5B	6776 6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081112	Baraitser-Winter syndrome 1	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1	345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060295	complement component 2 deficiency	C2	717	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050884	triosephosphate isomerase deficiency Aliases: Triose phosphate-isomerase deficiency	TPI1	7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110699	hypotrichosis 2 Aliases: Htss1 Hypt2 Spanish type hypotrichosis hypotrichosis simplex of the scalp 1	CDSN	1041	Homo sapiens (human)	Alliance of Genome Resources
DOID:12679	nephrocalcinosis	BRD4	23476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources

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