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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 **7326 - 7350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081421	familial focal epilepsy with variable foci 1	DEPDC5	9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:3213	demyelinating disease Aliases: demyelinating disorder	CCR2 CD80 CXCR2 ENTPD1 KLK6 MBP MYC NEFL PLP1 PTGS2 TUBB4A	10382 3579 4155 4609 4747 5354 5653 5743 729230 941 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:11257	social phobia	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	CBX2 DLC1 STARD13	10395 84733 90627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome Aliases: CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay	NALCN	259232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050649	atransferrinemia Aliases: familial hypotransferrinemia	TF	7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	CDC42	998	Homo sapiens (human)	Alliance of Genome Resources
DOID:83	cataract	ADAM10 AKR1B1 ALDH18A1 ANXA1 B2M BCOR BRCA2 CASP9 CAT CCK CCL11 CDKN1B CRIM1 CRYAA CRYAB CTH DNASE2B FAS FDFT1 G6PD GALK1 GCLC GCNT2 GPX1 HSF4 INTS1 LIM2 LSS MAP2K1 MMP3 NFE2L2 NR3C1 OGG1 PIK3C2A PIKFYVE PON1 PSMC3 RBM24 SIPA1L3 SLC2A14 SLC2A3 SLC45A2 SLC9A1 SOD1 SORD TRPM3 VPS13B WFS1	102 1027 1409 1410 144195 1491 157680 200576 221662 2222 23094 231 2539 2584 26173 2651 2729 2876 2908 301 3299 355 3982 4047 4314 4780 4968 51151 51232 5286 5444 54880 5604 567 5702 5832 58511 6356 6515 6548 6647 6652 675 7466 80036 842 847 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111933	phosphoglycerate kinase 1 deficiency Aliases: GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency	PGK1	5230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	CAT ELN KDR MMP2 MMP9 OGG1 PECAM1 TP53 VEGFA VEGFC	2006 3791 4313 4318 4968 5175 7157 7422 7424 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081146	common variable immunodeficiency 3	CD19	930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:10303	sialadenitis Aliases: Sialoadenitis	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111983	immunodeficiency 52 Aliases: IMD52 severe combined immunodeficiency due to LAT deficiency	LAT	27040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110581	autosomal dominant nonsyndromic deafness 56 Aliases: DFNA56 autosomal dominant deafness 56	TNC	3371	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111461	cardiofaciocutaneous syndrome 2 Aliases: CFC2	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:14227	azoospermia	BSCL2 CDC34 CDC42BPA CDC42BPB CDC42BPG ISYNA1 NDST1 NDST2 NDST3 NDST4 PTPRD PTPRF PTPRS RBBP4 SCAPER SNRPA1 UBE2R2	26580 3340 49855 51477 54926 55561 5789 5792 5802 5928 64579 6627 8476 8509 9348 9578 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:11516	hypertensive heart disease	NPPB	4879	Homo sapiens (human)	Alliance of Genome Resources
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACE ADRB2 ALB C3 C5 CCL11 CCL7 CCR7 CD14 CD163 CYP1A1 CYP2E1 DEFB1 EDN1 FCGR3A GRP ICAM1 IKBKB IL10 IL13 IL13RA2 IL1A IL1RN IL6 IRF5 ITGA4 ITGB2 MBL2 MIF MUC1 MUC2 REG3G SERPINE1 SFTPA1 SFTPB SFTPD SLC11A2 SOD3 TGFB1 TNC TNFRSF1B	1236 130120 154 1543 1571 1636 1672 1906 213 2214 28 2922 3371 3383 3551 3552 3557 3569 3586 3596 3598 3663 3676 3689 4153 4282 4582 4583 4891 5054 6354 6356 6439 6441 653509 6649 7040 7133 718 727 929 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:401	multidrug-resistant tuberculosis	HLA-DQB1 HLA-DRB1	3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:2697	renal adenoma Aliases: renal cell adenoma	ATP7B	540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	ACTA2 BAX CD209 CD36 COL1A1 COL3A1 GAPDH HLA-DQA1 HLA-DQB1 HLA-DRB1 IL10 INHBA LEF1 MMP9 SNAI1 TWIST1 ZEB1	1277 1281 2597 30835 3117 3119 3123 3586 3624 4318 51176 581 59 6615 6935 7291 948	Homo sapiens (human)	Alliance of Genome Resources

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