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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **826 - 850** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	20454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	st3gal5	100329191	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	st3gal5.L st3gal5.S	108697625 108706512	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	83505	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5733	salpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:0050904	salivary gland carcinoma	PTGS1	5742	Homo sapiens (human)	Alliance of Genome Resources
DOID:8850	salivary gland cancer Aliases: malignant neoplasm of salivary gland	ACACB ISYNA1 LGALS3 MSLN PYGB ST3GAL4 VCAN	10232 1462 32 3958 51477 5834 6484	Homo sapiens (human)	DisGeNET
DOID:4866	salivary gland adenoid cystic carcinoma Aliases: Cylindroma	ACACA ACACB CD44 CNTN6 GPC3 HSPG2 ICAM5 IDH1 ISYNA1 LGALS3 LYZ NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 PYGB RECK SDC1 SMUG1 ST3GAL4 VCAN	1462 23583 2719 27255 31 32 3339 3417 3958 4069 4684 51477 5290 5291 5293 5294 5728 5743 5834 6382 6484 7087 8434 960	Homo sapiens (human)	DisGeNET
DOID:11507	rumination disorder Aliases: Psychogenic rumination	COMT FUT3 IDS	1312 2525 3423	Homo sapiens (human)	DisGeNET
DOID:8781	rubella Aliases: german measles	ABO CANX FCN2 HPGDS IL18R1 MRC1	2220 27306 28 4360 821 8809	Homo sapiens (human)	DisGeNET
DOID:8881	rosacea Aliases: Acne roscea Acne, erythematosa	CALR CEACAM5 CEACAM7 CYP19A1	1048 1087 1588 811	Homo sapiens (human)	DisGeNET
DOID:14550	root resorption	PTGS1 PTGS2 TNF	5742 5743 7124	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14550	root resorption	Tnf	21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14550	root resorption	Tnf	24835	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	NDUFAB1	4706	Homo sapiens (human)	DisGeNET
DOID:0060255	rippling muscle disease 2 Aliases: autosomal dominant limb-girdle muscular dystrophy type 1C	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CHPT1 CRPPA DAG1 DCN DHDDS DPEP1 DPM1 DPM2 DPM3 ENO1 FASN FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2194 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 56994 6383 6476 729920 79147 79947 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	CFC1	55997	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11103	rickettsialpox Aliases: Rickettsia akari spotted fever Vesicular rickettsiosis	CS	1431	Homo sapiens (human)	DisGeNET
DOID:10609	rickets Aliases: active rickets	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL L1CAM MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 3897 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)	DisGeNET
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	FAR1	84188	Homo sapiens (human)	Alliance of Genome Resources
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS FAR1 GNPAT	84188 8443 8540	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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