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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 **10351 - 10375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ACE ADM AHCY APOE CCL2 CSF2 ELN EZH2 FASLG FOLH1 FTO HLA-DQA1 HLA-DRB1 IFNG IL10 ITGAM ITGAV KNG1 LOX MMP12 MMP13 MMP14 MMP1 MMP2 MMP3 MMP8 MMP9 MTHFD1 MTR MYH11 NOS2 NR1H3 P2RY12 PLA2G7 PON1 POSTN SELL SERPINE1 SLC19A1 SOD2 SORT1 TYMS	10062 10631 133 1437 1636 191 2006 2146 2346 3117 3123 3458 348 356 3586 3684 3685 3827 4015 4312 4313 4314 4317 4318 4321 4322 4323 4522 4548 4629 4843 5054 5444 6272 6347 6402 64805 6573 6648 7298 79068 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111693	familial adult myoclonic epilepsy 4 Aliases: FAME4 FCMTE4 familial cortical myoclonic tremor and epilepsy 4	YEATS2	55689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111698	proprotein convertase 1/3 deficiency Aliases: PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing	PCSK1	5122	Homo sapiens (human)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ACVR2A ACVR2B BMP2 BMP4 BMP6 BMP7 FBN1 MATN3 MMP12 MMP14 MMP2 TGFBR2	2200 4148 4313 4321 4323 650 652 654 655 7048 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060302	type II complement component 8 deficiency	C8B	732	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	55636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	ATP13A2	23400	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	CRAT FTH1 NDUFAB1 REPS1	1384 2495 4706 85021	Homo sapiens (human)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	ANXA1 ANXA2 TP53	301 302 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ZIC4 ZNF423	23090 84107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	EPOR	2057	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111577	dehydrated hereditary stomatocytosis 2 Aliases: desiccytosis Gardos xerocytosis Gardos	KCNN4	3783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080093	myofibrillar myopathy 2 Aliases: alpha-b crystallinopathy	CRYAA CRYAB	1409 1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1 Aliases: NFU1 deficiency	NFU1	27247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080335	mitochondrial DNA depletion syndrome 12b	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111927	spermatogenic failure 37 Aliases: SPGF37	TTC21A	199223	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081168	HMG-CoA synthase 2 deficiency Aliases: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency	HMGCS2	3158	Homo sapiens (human)	Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	ARPC1B CBLIF CCL2 NOD2 PTGS2 TNF	10095 2694 5743 6347 64127 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112310	central precocious puberty 1 Aliases: CPPB1	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I Aliases: LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related	FKRP	79147	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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