GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **9176 - 9200** of **15957** in total

« First

‹ Prev

…

364

365

366

367

368

369

370

371

372

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050426	Stevens-Johnson syndrome	CLU HLA-A HLA-B HLA-DQB1 TNF	1191 3105 3106 3119 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Aliases: SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	MCM2	4171	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080594	hyper IgE recurrent infection syndrome 2	DOCK8	81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110644	long QT syndrome 1 Aliases: LQT1 ventricular fibrillation with prolonged QT interval	KCNQ1	3784	Homo sapiens (human)	Alliance of Genome Resources
DOID:1884	viral hepatitis Aliases: Viral hepatitis with hepatic coma animal viral hepatitis human viral hepatitis	IFNG IL2 STAT4 TERT	3458 3558 6775 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies Aliases: DEVDFB	U2AF2	11338	Homo sapiens (human)	Alliance of Genome Resources
DOID:3996	urinary system cancer	WNT2	7472	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	FAM20A	54757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111411	exudative vitreoretinopathy 4 Aliases: EVR4	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111548	ring dermoid of cornea Aliases: RDC ring dermoid syndrome	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	AHNAK B2M C9orf72 CD200 GPR132 HLA-DQA1 HLA-DQB1 HLA-DRB1 IDH1 NOD2 PARP1 SIAE	142 203228 29933 3117 3119 3123 3417 4345 54414 567 64127 79026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060001	withdrawal disorder	AGO2 BDNF CAMK4 COMT CREB1 DRD1 FMR1 FOSB GAD1 GAD2 GRIA1 GRIN2A GRIN2B HTR1A HTR2A HTR2C KCNMA1 KCNU1 KDM4C NGF OPRD1 OPRK1 OPRM1 PRL PTGER3 SLC6A1	1312 1385 157855 1812 23081 2332 2354 2571 2572 27161 2890 2903 2904 3350 3356 3358 3778 4803 4985 4986 4988 5617 5733 627 6529 814	Homo sapiens (human)	Alliance of Genome Resources
DOID:8354	complement component 3 deficiency Aliases: C3 deficiency	C3	718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	TRPM1	4308	Homo sapiens (human)	Alliance of Genome Resources
DOID:2033	communication disorder	COL6A3 DDB1	1293 1642	Homo sapiens (human)	Alliance of Genome Resources
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	PDGFA PDGFB PDGFRA PDGFRB PDPN	10630 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	ABCA3 ARHGAP32 ASH1L AVPR1B BAIAP2 BCL11A BDNF BORCS8-MEF2B BRINP1 CADM2 CAMK2A CASK CFL1 CHD1 CHD2 CHD6 CHD7 CHD8 CHD9 CHRNB2 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP3B CNTNAP4 CNTNAP5 COMT CREB1 CREBBP CSDE1 CTNNB1 CTNND1 CTNND2 CUL3 CYFIP1 DLGAP4 DSCAM DSCAML1 DYRK1A EIF4B EIF4E ELP2 EN2 EXT1 FMR1 FOXP2 FXR1 FXR2 GABRB3 GAD1 GAD2 GRIN1 HTR2A HTR2B HTR2C IHH ITGA4 ITPR3 KDM5B KMT5B KMT5C LAMC1 LAMC2 LAMC3 LRBA LRFN2 MAOA MBD5 MBD6 MEF2A MEF2B MEF2C MEF2D MET MMP9 MOCOS NAA15 NAA16 NBEA NDST1 NDST2 NDST3 NDST4 NLGN1 NLGN2 NLGN3 NLGN4X NLGN4Y NR3C2 NRCAM NRP2 NRXN1 NRXN2 NRXN3 OPRL1 OPRM1 PAK2 PDGFRB PIANP PKP2 PKP4 POGZ PREX1 PRICKLE1 PTEN RIMS1 RIMS2 SCAMP1 SCAMP2 SCN1A SCN2A SHANK1 SHANK2 SHH SLC25A12 SLC6A2 SLC6A3 SLC6A4 SLC7A5 SLC9A9 SRSF11 SSBP2 SSBP3 SSBP4 SYN1 SYN2 SYN3 SYNGAP1 TAOK1 TAOK2 TBR1 TCF20 TMPRSS9 TPH1 TRPC4 TRPC5 TSC1 TSC2 TSHZ3 UBE3A VRK3 WDFY3 WDR75 ZNF280B ZNF280D	100271849 10066 10319 10458 10716 1072 10765 1105 1106 1141 114785 129684 1312 1385 1387 140883 144165 1499 1500 1501 1620 170463 1826 1859 196500 1975 1977 2020 21 2131 22829 22839 22871 22941 22999 23001 23126 23191 2332 23635 23648 253559 2562 2571 2572 26047 26960 285195 2902 3340 3356 3357 3358 3549 360200 3676 3710 3915 3918 4128 4205 4207 4208 4209 4233 4306 4318 4897 4987 4988 5062 50944 51111 51231 5159 5318 53335 54413 54816 55034 55250 553 55636 55777 55870 5728 57453 57497 57502 57551 57555 57580 57616 57680 627 6323 6326 64579 6469 6530 6531 6532 6853 6854 6942 7166 7223 7224 7248 7249 728577 7337 7812 79612 79937 80155 80205 8087 8140 815 8224 84128 84181 8452 84787 8502 8506 8509 85445 8573 8604 8828 8831 9295 9344 9348 9369 9378 9379 93986 9513 9522 9699 9743 987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111128	focal segmental glomerulosclerosis 1 Aliases: FSGS1	ACE ACTN1 ACTN2 ACTN4	1636 81 87 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	WNT10A	80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:14183	alcoholic neuropathy Aliases: Alcohol-related polyneuropathy Alcoholic polyneuropathy	IGF1R IGF2	3480 3481	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090048	dystonia 16	PRKRA	8575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070260	congenital disorder of glycosylation type IIh Aliases: CDG IIh CDG2H CDGIIdh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h	COG8	84342	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	FAT2	2196	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements