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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 **3076 - 3100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CD44 G6PD GANC LMAN1 LPIN2 MAN2A1 MCFD2 MGAT2	2539 2595 3998 4124 4247 90411 960 9663	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1800	neuroendocrine carcinoma	ABO ACOT7 ACSS2 ALG9 AMACR APRT B3GAT1 CALR CD33 CD44 CEACAM5 CEACAM7 CHGA DAD1 DPEP1 ENO2 FH GFRA1 GM2A GPC3 HPSE IDH2 ISYNA1 MTAP MUTYH NAMPT NCAM1 NT5E NTNG1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLCB3 PTEN SDC1 SDHA SDHB SDHC SDHD SELL SMUG1 SQLE TM7SF2 VCAN	10135 1048 10855 1087 1113 11332 142 1462 1603 1800 2026 2271 22854 23583 23600 23659 2674 27087 2719 2760 28 3418 353 4507 4595 4684 4907 5130 51477 5290 5291 5293 5294 5331 55902 5728 6382 6389 6390 6391 6392 6402 6713 7108 79796 811 945 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	PRKCSH	5589	Homo sapiens (human)	DisGeNET
DOID:2297	leptospirosis Aliases: Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice	ACAT1 ACHE FUT4 ICAM1 LGALS3 MBL2 SELE	2526 3383 38 3958 4153 43 6401	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	CHST3	9469	Homo sapiens (human)	DisGeNET
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	CALR DGAT1 PTGS2	5743 811 8694	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	ACE CAT CD55 G6PD GAPDH HK1 PGK1 PTGS2 ST8SIA4 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UMPS	1604 1636 2539 2597 3098 5230 54575 54576 54577 54578 54657 54658 5743 7372 7903 847	Homo sapiens (human)	DisGeNET DisGeNET
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:4839	sebaceous adenocarcinoma Aliases: Sebaceous carcinoma adenocarcinoma of the Sebaceous gland	CD44 MUTYH PIK3CA PTEN	4595 5290 5728 960	Homo sapiens (human)	DisGeNET
DOID:3108	ascaridiasis	CAT CHIT1 CYP1A1 SIGLEC1	1118 1543 6614 847	Homo sapiens (human)	DisGeNET
DOID:9362	status asthmaticus Aliases: Asthma with status asthmaticus Severe asthma attack	CD14	929	Homo sapiens (human)	DisGeNET
DOID:0050690	brachyolmia Aliases: brachyrachia	PAPSS2	9060	Homo sapiens (human)	DisGeNET
DOID:0110038	Alzheimer's disease 6 Aliases: AD6 Alzheimer disease 6 Alzheimer disease 6, late onset	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)	DisGeNET
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	AGPAT2 ASAH1 GCK INS PDHX SLC2A2	10555 2645 3630 427 6514 8050	Homo sapiens (human)	DisGeNET 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:13405	cardiac sarcoidosis	CALR SMUG1	23583 811	Homo sapiens (human)	DisGeNET
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	CYP2B6 H6PD HSD11B1	1555 3290 9563	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2 Aliases: CVPT2	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:11265	trachoma Aliases: active stage trachoma trachoma dubium	IL18R1 TNF	7124 8809	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	ALDH5A1 ME2 NPL	4200 7915 80896	Homo sapiens (human)	DisGeNET
DOID:10686	lactocele Aliases: Galactocele	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)	DisGeNET
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	ICAM1 IL1R1 PSMD10 PTGS2 TLR2 TLR4 TNF TP53	3383 3554 5716 5743 7097 7099 7124 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1678	chronic interstitial cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 8398 9126 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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