GlyCosmos Portal

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

Displaying entries **201 - 225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	Alg2	313231	Rattus norvegicus (Norway rat)
DOID:0110576	autosomal dominant nonsyndromic deafness 50 Aliases: DFNA50 autosomal dominant deafness 50	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:3772	intraventricular meningioma	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	enol-1 gpd-1 gpd-3 gpd-4 gsto-1 parp-1	174423 174578 174603 180601 183000 266823	Caenorhabditis elegans
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	cht-1	180628	Caenorhabditis elegans
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	ACE AMACR ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRNP PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 23600 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5621 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	ACE ACOT7 AKR1C3 ANXA5 ATP6AP2 CALR CHI3L1 COMT CYP11B1 CYP11B2 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2J2 CYP2R1 CYP3A5 EFNA1 ENPP1 GAPDH GPI GPX1 GPX3 HADHA HPGDS HSD11B1 HSD11B2 HSD3B1 HSD3B2 HSPG2 ICAM1 IL18R1 ISYNA1 LEP LEPR LGALS1 LIPC LPL MBL2 OGG1 OLR1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G6 PLAUR PLB1 PTGDS PTGS1 PTGS2 PYGM RBP4 RENBP SDC1 SELL SIRT4 SLC17A5 SLC2A1 TLR4 TNF VCAM1	10159 1116 11332 120227 1312 151056 1573 1577 1584 1585 1588 1589 1591 1594 1636 1942 23409 2597 26503 27306 2821 2876 2878 3030 308 3283 3284 3290 3291 3339 3383 3952 3953 3956 3990 4023 4153 4968 4973 51477 5167 5290 5291 5293 5294 5320 5329 5730 5742 5743 5837 5950 5973 6382 6402 6513 7099 7124 7412 811 8398 8644 8809	Homo sapiens (human)
DOID:591	phobic disorder	ABAT ABO ACACA ACE ACHE AKR1C1 AKR1C3 ALDH2 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSI B3GAT1 CAT CHGA CNTN3 COMT CYP17A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 ENO1 FDPS GAD1 GAD2 GALNS GLO1 GOLPH3 GPNMB HSD11B2 INPP5K L1CAM LGALS3 LIPA LYPD6 MANEA MGLL MPI NANS PAFAH1B1 PARP1 PC PCYT1A PMM2 PSAP PTGS2 SDHD SIRT6 SLC33A1 SMUG1 SRD5A1 UGT2B15 UMOD	10457 1113 11343 130574 1312 142 1544 1555 1557 1571 1586 1636 1645 18 2023 217 2224 23583 249 2571 2572 2588 27087 2739 276 277 278 28 31 3291 340075 3897 3958 3988 410 414 43 4351 5048 5067 5091 5130 51548 51763 5373 54187 5660 5743 6392 64083 6715 7366 7369 79694 847 8644 9197	Homo sapiens (human)
DOID:0110444	dilated cardiomyopathy 1X Aliases: CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:1800	neuroendocrine carcinoma	Eno2	13807	Mus musculus (house mouse)
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	CD38 CEACAM5 CEACAM7 CMAS	1048 1087 55907 952	Homo sapiens (human)
DOID:0060322	mastoiditis	Tlr2 Tlr4	21898 24088	Mus musculus (house mouse)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	ZC250.2	178968	Caenorhabditis elegans
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	eogt	780148	Xenopus tropicalis (tropical clawed frog)
DOID:0110138	Bardet-Biedl syndrome 16 Aliases: BBS16	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	GGT1 NAAA	2678 27163	Homo sapiens (human)
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	ACE AKR1A1 CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 LRP5 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNPLA2 PSMD10 SORD TM7SF2 TMED5	10327 10855 1636 2053 2220 27349 3383 3956 4041 50999 5290 5291 5293 5294 57104 5716 6652 7108 7941 847	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	39404	Drosophila melanogaster (fruit fly)
DOID:0060402	chromosome 17p13.1 deletion syndrome	ALPP ATRNL1 CD33 CD38 COMT CYP2B6 FCN2 OCRL PAFAH1B1 PIGA PIGN PLCB1 PLCE1 PLCG1 PTEN SLC17A5	1312 1555 2220 23236 23556 250 26033 26503 4952 5048 51196 5277 5335 5728 945 952	Homo sapiens (human)
DOID:0080822	aspirin-induced respiratory disease Aliases: aspirin-sensitive asthma	PTGS2	5743	Homo sapiens (human)
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	CD14 CLEC16A CYP11A1 CYP11B1 CYP17A1 CYP21A2 CYP27B1 CYP2B6 GAD2 GLUL GMPPA HSD11B1 HSD17B4 LIPA MICA PLA2G2A SGPL1 TM7SF2 UGT2B28	100507436 1555 1583 1584 1586 1589 1594 23274 2572 2752 29926 3290 3295 3988 5320 54490 7108 8879 929	Homo sapiens (human)
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	ADH1B ATRN CHKB CNTN3 CPT1B GLO1 L1CAM NANS	1120 125 1375 2739 3897 5067 54187 8455	Homo sapiens (human)

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