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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 **11126 - 11150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060218	CREST syndrome	CENPC FBN1	1060 2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060883	intestinal hypomagnesemia 1 Aliases: HOMG1 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia with secondary hypocalcemia	TRPM6	140803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	ALG12 ALG1 ALG1L2 ALG5 ALG6 ALG8 ALG9 DOLK DPM1 DPM3 MPI PMM1 PMM2 RFT1 SRD5A3	22845 29880 29929 4351 5372 5373 54344 56052 644974 79053 79087 79644 79796 8813 91869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)	Alliance of Genome Resources
DOID:11204	allergic conjunctivitis	CCL11 CCL5 CCL7 ICAM1 IFNG IL10 IL13 IL1RN IL4R MUC1 MUC2 MUC4 PLA2G2A TLR4 TLR9 TNC	3371 3383 3458 3557 3566 3586 3596 4582 4583 4585 5320 54106 6352 6354 6356 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060352	Kleefstra syndrome 1 Aliases: 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome	EHMT1 EHMT2	10919 79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070151	hereditary sensory and autonomic neuropathy type 6 Aliases: HSAN6 hereditary sensory and autonomic neuropathy type VI	DST	667	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070303	multiple epiphyseal dysplasia 1 Aliases: EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:3247	rhabdomyosarcoma	ANGPT2 CAD	285 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080872	primary ovarian insufficiency 15	FANCM	57697	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050847	sleep apnea	ADIPOQ IL6R LEPR SERPINE1 TBP	3570 3953 5054 6908 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:9277	primary cerebellar degeneration	PITRM1 SIL1	10531 64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:8515	Cor pulmonale Aliases: cardiopulmonary disease pulmonary heart disease	AGER CX3CL1 TNF	177 6376 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:4195	hyperglycemia	ADRB1 AKR1B1 AVP CBL CCL11 CYP11A1 CYP2C9 DRD1 EPAS1 F2 F7 GCK GIPR GLP1R GPX1 HCRTR2 HK2 HK3 HKDC1 HP HRH3 HSPD1 HSPG2 HTR2A ICAM1 IL1A IL1RN IL6 ITGAM ITGAV LDHA LEPR MMP9 PCSK1 PDX1 PKLR PLA2G4A PON1 PPARGC1A PRNP PTCH1 SDC1 SOD1 TF TSHB	10891 11255 153 1559 1583 1812 2034 2147 2155 231 2645 2696 2740 2876 3062 3099 3101 3240 3329 3339 3356 3383 3552 3557 3569 3651 3684 3685 3939 3953 4318 5122 5313 5321 5444 551 5621 5727 6356 6382 6647 7018 7252 80201 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:4692	endophthalmitis	FAS IFNG TNF	3458 355 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	ADM ALB CCL2 CD14 CFH HMGB1 IRF5 LBP PCNA UCP2	133 213 3075 3146 3663 3929 5111 6347 7351 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:11162	respiratory failure Aliases: acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure	IL15 MBL2 NUP188 SFTPB	23511 3600 4153 6439	Homo sapiens (human)	Alliance of Genome Resources
DOID:3978	extrinsic cardiomyopathy	PFKFB3	5209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080685	aortic dissection	ACTA1 EFEMP2 EPHB1 NONO SPP1	2047 30008 4841 58 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:4617	periapical granuloma Aliases: Apical granuloma	CCL7 CCR2 CCR3	1232 6354 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070495	mitochondrial complex IV deficiency nuclear type 8 Aliases: MC4DN8	TACO1	51204	Homo sapiens (human)	Alliance of Genome Resources
DOID:12714	Ellis-Van Creveld syndrome Aliases: Chondroectodermal dysplasia mesoectodermal dysplasia	EVC2 WDR35	132884 57539	Homo sapiens (human)	Alliance of Genome Resources

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