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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 **301 - 325** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:9279	hyperhomocysteinemia	Atp1a2 G6pd	24212 24377	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	gspd-1	178046	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	Atp1a2 G6pd2 G6pdx	14380 14381 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9278	hyperargininemia Aliases: Arginase deficiency argininemia deficiency of canavanase	ARSD	414	Homo sapiens (human)	DisGeNET
DOID:9277	primary cerebellar degeneration	CEACAM5 FASN GAD1 HSD17B4 IDH2 INPP5K MBD4 MRC1 PARP1 PIK3CA PRNP PTEN PTGES PTGS2 SULF1 VCAM1	1048 142 2194 23213 2571 3295 3418 4360 51763 5290 5621 5728 5743 7412 8930 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9275	tyrosinemia	ACAT1 IDUA OGG1	3425 38 4968	Homo sapiens (human)	DisGeNET
DOID:9274	hyperlysinemia	GAD1 GCDH HMGCL PC	2571 2639 3155 5091	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	Slc25a13	50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ACOX1 ARSD GGT1 GPD2 SLC25A12 SLC25A13	10165 2678 2820 414 51 8604	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9271	ornithine carbamoyltransferase deficiency Aliases: deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency	CYP21A2 GLUL	1589 2752	Homo sapiens (human)	DisGeNET
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	CHIT1 SMUG1	1118 23583	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB CACNA2D2 CYB5R3 DBT DLD HADH LPL UMOD	1629 1727 1738 3033 4023 593 594 7369 9254	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:9267	urea cycle disorder Aliases: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect	ACADL ACADM ACADVL ACAT1 AMT CAT CPT1A CPT2 CYP2C9 DLD GCK GCSH GLUL HADH HADHA HADHB HMGCL MMUT OGDH PC PCCA PCCB	1374 1376 1559 1738 2645 2653 275 2752 3030 3032 3033 3155 33 34 37 38 4594 4967 5091 5095 5096 847	Homo sapiens (human)	DisGeNET
DOID:9266	cystinuria	Slc3a1	29484	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9266	cystinuria	Mal-A1 Mal-A2 Mal-A3	35824 35825 35826	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9266	cystinuria	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9266	cystinuria	Slc3a1	20532	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9266	cystinuria	IMA1 IMA2 IMA3 IMA4 IMA5 MAL12 MAL32	852602 853204 853209 853214 853235 854008 854635	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	ALDH7A1 CAT CYP7A1 MMUT PEMT SCD	10400 1581 4594 501 6319 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	ABO ACE ADH1B AGK AKR1B10 ALDH2 ALPI ALPP AMACR ANXA5 ANXA7 APRT ARSA ART1 BDH2 BST2 CACNA2D2 CACNA2D3 CALR CD209 CD38 CD44 CD93 CDH13 CEL CLC CPT1A CYB5R2 CYP2E1 DHCR24 EFNA2 ENO1 FASN FCER2 FH FOLR1 GALC GALNT7 GFPT1 GGT1 GPX1 GPX2 GUSB HPGDS HPSE ICAM1 INPP4B KLRK1 LDHA LGALS1 LGALS9 LYPD5 MAPK14 MICA MLYCD MMUT MRC1 MTAP OGG1 OPCML PARP1 PFKFB3 PIGU PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G6 PLA2G7 PLAAT3 PLB1 PLCD3 PNPLA2 PRKAA2 PTEN PTGS2 RECK RPN2 RTN4R RTN4RL1 SDC1 SELP SIRT2 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SRGN TIGAR TKT TKTL1 TM7SF2 TP53 TYMP UGT2B17 VCAM1	100507436 1012 1056 10855 11145 113026 1178 125 128869 1374 142 1432 146760 151056 1571 1636 1718 1890 1943 2023 217 2194 2208 2271 22914 22918 22933 23417 2348 23583 23600 248 250 2581 2673 2678 27306 28 284348 2876 2877 2990 308 30835 310 3383 353 3939 3956 3965 410 417 4360 4507 4594 4968 4978 51548 51700 51809 5209 5290 5291 5293 5294 5315 5319 5552 5563 55750 55799 56898 57016 57103 57104 5728 5743 6185 6382 6403 65078 6609 6646 684 7086 7108 7157 7367 7412 7941 811 8277 8398 8434 8821 8877 9254 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	Calr	41166	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	Mapk14 Trp53	22059 26416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9261	nasopharynx carcinoma Aliases: Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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