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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 **9101 - 9125** 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:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	56623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050950	autosomal recessive cerebellar ataxia	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources
DOID:13404	uveoparotid fever Aliases: Heerfordt's syndrome	HLA-DRB1	3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:813	septic arthritis Aliases: infectious arthritis	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110459	dilated cardiomyopathy 1FF Aliases: CMD1FF	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	CDK5 GABRG1	1020 2565	Homo sapiens (human)	Alliance of Genome Resources
DOID:2349	arteriosclerosis Aliases: Arteriosclerotic vascular disease	ABCG5 ABCG8 ACAT1 AKR1B1 ALDH3A1 ALOX5 ALPL APOA1 APOB APOH B2M CCL5 CD36 CDH13 CHI3L1 EGR1 ESR1 F13A1 F7 FURIN HGF HP HSPD1 IFNGR1 IGFBP3 IL10 IL15 IL6ST ITGA2 ITGA7 KDR LCAT LDLR LEPR LMNA LOX MAP3K7 MET MMP12 MMP13 MMP14 MMP1 MMP2 MMP3 MMP9 MSR1 NME2 NOTCH4 NPPC PAPPA PON1 PPARG PTGER4 PTGS2 RELA SERPINA1 TBXAS1 TGFB1 TGFBR2 TLR4 TNFRSF14	1012 1116 1958 2099 2155 2162 218 231 240 249 3082 3240 3329 335 338 3459 3486 350 3572 3586 3600 3673 3679 3791 38 3931 3949 3953 4000 4015 4233 4312 4313 4314 4318 4321 4322 4323 4481 4831 4855 4880 5045 5069 5265 5444 5468 567 5734 5743 5970 6352 64240 64241 6885 6916 7040 7048 7099 8764 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:3305	teratocarcinoma Aliases: mixed Embryonal carcinoma and teratoma	AFP	174	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	EGR2 MPZ PMP22	1959 4359 5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110856	posterior polymorphous corneal dystrophy 2 Aliases: Ppcd2	COL8A2	1296	Homo sapiens (human)	Alliance of Genome Resources
DOID:3500	gallbladder adenocarcinoma Aliases: adenocarcinoma of the gallbladder	ACE DDR2	1636 4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070025	X-linked dyskeratosis congenita Aliases: DKCX Zinsser-Cole-Engman syndrome	DKC1	1736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080609	anterior segment dysgenesis 4	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	GRN TARDBP	23435 2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	ARX CDK15 CDK5 CDK5R2 DAG1 DYNC1H1 NOS1 NOS2 NOS3 PAFAH1B1 POMGNT1 POMT1 POMT2 TUBA1A TUBA1B TUBA1C TUBA4A WDR75	1020 10376 10585 1605 170302 1778 29954 4842 4843 4846 5048 55624 65061 7277 7846 84128 84790 8941	Homo sapiens (human)	Alliance of Genome Resources
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ABCC3 ADRB2 AMN APOL1 APOL3 BMP7 CASP9 CCL2 CCL5 CDC42 COL4A1 CTLA4 CUBN F7 FGR G6PD GBA3 HAVCR1 HCK HNF1A KAT2A KAT2B KIRREL1 KIRREL2 KL KLB LCN2 LCT LCTL LIPC MIF MKI67 MLXIPL MMP9 MYH9 NFATC1 NPHS1 PALS1 PPP3CA RAC1 RAC2 RAC3 RAMP2 RELB SRC SREBF1 SREBF2 STOM TGFBI TGFBR1 TGFBR2 TNF TNFRSF1A TRPC6 UMOD VPS33B XYLT1	10266 1282 1493 152831 154 197021 2040 2155 2268 2539 26276 2648 26762 3055 3934 3938 3990 4282 4288 4318 4627 4772 4868 51085 55243 5530 57733 5879 5880 5881 5971 6347 6352 64131 64398 655 6714 6720 6721 6927 7045 7046 7048 7124 7132 7225 7369 8029 80833 81693 84063 842 8542 8714 8850 9365 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	CXCR4 PLAT	5327 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:14679	VACTERL association	DYNC2H1 FN1 PCSK5 QSOX1 SHH TBC1D32	221322 2335 5125 5768 6469 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	IGFBP3 KRT2 MDM2	3486 3849 4193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	ADAMTS10 ADAMTS17 FBN1 LTBP2 TNF	170691 2200 4053 7124 81794	Homo sapiens (human)	Alliance of Genome Resources

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