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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 **4101 - 4125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110546	autosomal dominant nonsyndromic deafness 15 Aliases: DFNA15 autosomal dominant deafness 15	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0060405	chromosome 17q23.1-q23.2 deletion syndrome Aliases: 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	ACHE AKR1B1 CDS1 CHI3L1 FCGR3B FCN2 FOLR2 GALNT2 ICAM1 IL1RL1 KLRK1 MBD4 MBL2 MICA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLCE1 PTEN PTGS2 SELE SHMT1 SMUG1 TLR4 VCAM1	100507436 1040 1116 2215 2220 22914 231 2350 23583 2590 3383 4153 43 51196 5289 5290 5291 5293 5294 5319 5320 5728 5743 6401 6470 7099 7412 8398 8930 9173	Homo sapiens (human)
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	ABO ANXA5 B3GAT1 CD48 CD55 FCGR3B HMMR LYPLA1 MBL2 OCRL PNP	10434 1604 2215 27087 28 308 3161 4153 4860 4952 962	Homo sapiens (human)
DOID:2938	Epstein-Barr virus infectious disease Aliases: EBV Infection Epstein-Barr virus infection	PTEN	5728	Homo sapiens (human)
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	TFAP2B	7021	Homo sapiens (human)
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	ACE	1636	Homo sapiens (human)
DOID:4239	alveolar soft part sarcoma	CD38 COG8 TMED6	146456 84342 952	Homo sapiens (human)
DOID:3112	papillary adenocarcinoma Aliases: Infiltrating and papillary adenocarcinoma infiltrating papillary adenocarcinoma	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 7108 7167 7357 81562 8277 8398 8434 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)
DOID:11339	pneumocystosis Aliases: Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis	ACAT1 ATP6AP2 CEL CLEC6A CLEC7A ENPP1 G6PD GAD1 GPX1 MRC1 PARP9 SFTPA1 SFTPA2 SFTPD SLC27A5 STS UAP1 XYLT2	10159 1056 10998 2539 2571 2876 38 412 4360 5167 64132 6441 64581 653509 6675 729238 83666 93978	Homo sapiens (human)
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	BRAF CFC1	55997 673	Homo sapiens (human)
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:7426	cutaneous anthrax	CAT	847	Homo sapiens (human)
DOID:2537	inflammatory and toxic neuropathy	ACE ACHE ARSA B3GAT1 BST1 CAT CD14 CD44 CD55 CHI3L1 COMT CYP7B1 DEGS1 FUCA1 GPI GPX1 HADHB HTR2A LGALS1 MAG NGLY1 OGG1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA6 PRKAA2 PRNP PRPS1 PSAP PTGS2 RPIA SCP2 SMUG1 TKT	10908 1116 1312 1604 1636 22934 23583 2517 27087 2821 2876 2923 3032 3356 3956 4099 410 43 4860 4968 5290 5291 5293 5294 5373 5563 55768 5621 5631 5660 5743 6342 683 7086 847 8560 929 9420 960	Homo sapiens (human)
DOID:2001	neuroma	PIK3CA	5290	Homo sapiens (human)
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2 SUCLG1 TYMP	1890 8802 8803	Homo sapiens (human)
DOID:4231	histiocytoma	KLRK1 MTAP	22914 4507	Homo sapiens (human)
DOID:0110264	cataract 33 Aliases: CTRCT33	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:3876	colonic pseudo-obstruction Aliases: primary chronic pseudo-obstruction of colon	ACHE	43	Homo sapiens (human)
DOID:11914	gastroparesis Aliases: Gastroparalysis Gastroparesis syndrome gastric atonia	B3GAT1 CHAT MRC1 STS	1103 27087 412 4360	Homo sapiens (human)
DOID:12574	posterior uveitis Aliases: Uveitis, posterior	ACE ICAM1	1636 3383	Homo sapiens (human)
DOID:0110490	autosomal recessive nonsyndromic deafness 31 Aliases: DFNB31 autosomal recessive deafness 31	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:7912	mixed oligodendroglioma-astrocytoma Aliases: WHO grade II mixed glioma	ACLY CAT CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB STS SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 412 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 847 8605 960	Homo sapiens (human)
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	ACE APRT COMT GAL3ST1 INPP5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PTEN SELE SLC35A1	10559 1312 1636 342372 353 5130 5290 5291 5293 5294 5310 5311 5313 56623 5728 6401 8394 9514	Homo sapiens (human)
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)

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