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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 **1276 - 1300** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	ABO CALR	28 811	Homo sapiens (human)
DOID:3262	phagocyte bactericidal dysfunction Aliases: phagocytic dysfunction	G6PD	2539	Homo sapiens (human)
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	ICAM1 PGM3 SOAT1	3383 5238 6646	Homo sapiens (human)
DOID:326	ischemia	ABAT AKT2 ANXA5 CYP2E1 LIPC PTGES PTGS2 SELL TP53	1571 18 208 308 3990 5743 6402 7157 9536	Homo sapiens (human)
DOID:3255	botryoid rhabdomyosarcoma Aliases: Botryoid sarcoma Botryoid-type Embryonal Rhabdomyosarcoma sarcoma botryoides	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)
DOID:3247	rhabdomyosarcoma	ALPI ALPP CEACAM5 CEACAM7 CYP2B6 DAG1 ENO2 G6PD GLB1 GOLPH3 GPC3 GPC5 HPSE ICAM1 IL1R1 LARGE1 LGALS3 NANS NEU2 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 RGN SIRT2 SMUG1 ST8SIA2 ST8SIA4 SYNJ1	1048 10855 1087 142 1555 1605 2026 2262 22933 23583 248 250 2539 2719 2720 283871 3383 3554 3958 4759 5290 5291 5293 5294 54187 57104 5728 5743 64083 7903 8128 8867 9104 9215	Homo sapiens (human)
DOID:3246	embryonal rhabdomyosarcoma	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)
DOID:3241	lipid pneumonia Aliases: Exogenous lipoid pneumonia Lipoid pneumonitis	SMUG1	23583	Homo sapiens (human)
DOID:3240	aspiration pneumonitis Aliases: Chemical pneumonitis Mendelson's Syndrome	ACE CAT CHAT PMM2	1103 1636 5373 847	Homo sapiens (human)
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	ABO ACE ACOX1 ACSBG1 ACSF3 ALOX12 ALPI ALPP AMT ANXA5 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 LDHA LGALS1 LGALS3 LGALS9 LY6K MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 OGG1 OPCML PARP1 PARP4 PARP9 PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SHMT1 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10462 1056 10855 10998 1312 142 143 1543 1545 1555 1571 1576 1586 1604 160418 1636 197322 2026 2208 2215 2262 2271 23205 2331 23417 23583 239 248 250 2539 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 3073 308 3099 3161 3251 3383 3417 3418 347734 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4968 4978 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 5506 55556 56848 56994 57103 5728 5730 5743 6382 6401 6470 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	EBP IDUA	10682 3425	Homo sapiens (human)
DOID:3225	tracheal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:3223	complex regional pain syndrome Aliases: Complex regional pain syndromes	B3GAT1 IL1R1	27087 3554	Homo sapiens (human)
DOID:3222	causalgia Aliases: Complex regional pain syndrome, type II	SMUG1	23583	Homo sapiens (human)
DOID:322	myelitis	ACE ADH5 AGA ALOX5 APRT ARSA ATP6V0A2 CAT CD1D CD38 CD44 CD48 CD74 CD93 CEMIP CERS2 CERS6 CH25H CHAT CHGA CHI3L1 CLEC12A COMT CPT1A CPT2 CYP17A1 CYP27B1 CYP46A1 DEGS1 DGAT1 ENO2 ENPP1 FASN FCER2 FOLR2 FUT7 FUT8 GAD1 GAD2 GANAB GAPDH GCK GLUL GPI HPGDS HPRT1 HPSE ICAM1 ICAM5 IL1R1 ISYNA1 KL KLRK1 L2HGDH LDHA LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LY75 MGLL MRC1 NCAM1 NDST1 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PRNP PSMD10 PTEN PTGDS PTGES PTGS2 RGMA RTN4R SDC1 SELE SELP SEMA7A SIGLEC1 SIRT6 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST3GAL4 STS TMED5 TPI1 VCAM1	10724 10855 10858 1103 1113 1116 11343 128 1312 1374 1376 142 151056 1586 1594 160364 1636 175 2026 2194 2208 22914 22918 23193 2350 23545 23583 240 2529 2530 253782 2571 2572 2597 2645 27306 2752 2821 29956 3251 3340 3383 353 3554 3939 3956 3958 3960 3964 3965 4065 410 412 4360 4684 4907 50999 51477 51548 5167 5290 5291 5293 5294 5315 5319 5320 5321 5621 56848 56963 5716 57214 5728 5730 5743 6382 6401 6403 6484 65078 6609 6614 6646 7087 7167 7412 79944 8398 847 8482 8560 8694 8877 9023 912 9365 952 9536 960 962 972	Homo sapiens (human)
DOID:3213	demyelinating disease Aliases: demyelinating disorder	ARSA CD1D FIG4 GALC GPC5 HPRT1 ICAM1 KL LGALS3 MAG PTGS2	2262 2581 3251 3383 3958 4099 410 5743 912 9365 9896	Homo sapiens (human)
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA ARSA ARSB ARSG ARSI ARSK ASAH1 CD1D CHIT1 CTNS CTSA FIG4 FUCA1 FUT1 GAA GALC GALNS GBA1 GLA GLB1 GNPTAB GNPTG GNS GPNMB GUSB HEXA HEXB HSD17B1 HYAL1 IDS IDUA IGF2R LIPA MAN2B1 MANBA MGAM NAGLU NEU1 OGA PIP4K2A PPT1 PRKAA2 PSAP SGSH SI SLC17A5 SMPD1 SUMF1	10457 10724 1118 1497 153642 175 22901 2517 2523 2548 2581 2588 2629 26503 2717 2720 2799 285362 2990 3073 3074 3292 3373 340075 3423 3425 3482 3988 410 411 4125 4126 427 4669 4758 5305 5476 5538 5563 5660 6448 6476 6609 79158 84572 8972 912 9896	Homo sapiens (human)
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	MAG	4099	Homo sapiens (human)
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	ACAN CNTN2 HPRT1 KLRC1 KLRD1 KLRK1 SELL	176 22914 3251 3821 3824 6402 6900	Homo sapiens (human)
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	GALK1	2584	Homo sapiens (human)
DOID:3206	plexiform schwannoma Aliases: Plexiform Neurinoma Plexiform neurilemmoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:3205	melanotic neurilemmoma Aliases: Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:3196	cellular schwannoma Aliases: cellular Neurinoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ARSA B3GAT1 CAT CD38 CD44 CEACAM5 CHSY1 CYP2E1 DCN G6PD HMMR IL1R1 LGALS1 NCAM1 PARP1 PARP2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 RECK SIGLEC7 SMUG1 SOAT1 STS TMEM165 VCAN	10038 1048 142 1462 1571 1634 22856 23583 2539 27036 27087 3161 3554 3956 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 6646 8434 847 952 960	Homo sapiens (human)

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