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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 **5751 - 5775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0111444	progressive myoclonus epilepsy 4 Aliases: AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome	CERS1 EPM2A GBA1 NEU1 PRNP	10715 2629 4758 5621 7957	Homo sapiens (human)
DOID:8282	adult epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)
DOID:2512	nevoid basal cell carcinoma syndrome Aliases: Gorlin syndrome NBCCS basal cell nevus syndrome	CYP1A1 CYP2B6 GAS1 GLB1 GPC3 HPSE SLC2A3	10855 1543 1555 2619 2719 2720 6515	Homo sapiens (human)
DOID:3030	mucinous adenocarcinoma Aliases: Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma	CD44 CD74 CEACAM5 CEACAM7 GOLPH3 GPC3 HPSE LGALS3 MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 TKTL1	1048 10855 1087 23583 2719 3958 4360 5290 5291 5293 5294 5728 64083 8277 960 972	Homo sapiens (human)
DOID:11968	postmenopausal atrophic vaginitis Aliases: Senile vaginitis atrophic vaginitis	CYP19A1	1588	Homo sapiens (human)
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	ACACA ACE ACOT7 ACSBG1 ALDH3A2 ALOX5 ANXA5 BST2 CAT CD14 CD1D CD22 CD248 CD44 CD72 CEL CHI3L1 CHST8 CYP1A1 CYP21A2 CYP2B6 CYP2C9 DCN DGKQ DLAT ENPP2 FCGR3B FCN2 FCN3 FOLR2 GLB1 GPI GPX3 HPGDS HPRT1 HSPG2 ICAM1 ICAM2 IL1R1 IL1RAP KL KLRB1 LGALS3 LGALS9 MBD4 MRC1 OXCT1 PARP1 PARP9 PGM1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD3 PLD4 PTEN PTGS2 RBP4 SDC1 SDC2 SDHC SELE SELL SFTPD SIGLEC1 SLC27A5 SLC33A1 SMUG1 SOAT1 ST3GAL1 ST6GAL1 SULT1E1 TM7SF2 TPI1 VCAM1 XYLT2	1056 10998 1116 11332 122618 142 1543 1555 1559 1589 1609 1634 1636 1737 2215 2220 224 23205 2350 23583 23646 240 2720 27306 2821 2878 308 31 3251 3339 3383 3384 3554 3556 3820 3958 3965 4360 5019 5168 5236 5287 5290 5291 5293 5294 5329 57124 5728 5743 5950 6382 6383 6391 6401 6402 64132 64377 6441 6480 6482 6614 6646 6783 684 7108 7167 7412 83666 847 8547 8930 912 9197 929 933 9365 960 971	Homo sapiens (human)
DOID:0080178	mucositis	PCNA PTGS2	5111 5743	Homo sapiens (human)
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	MAG	4099	Homo sapiens (human)
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	ACE AKR1B1 CNTN1 CYP21A2 CYP3A5 ENO1 EXT1 EXT2 FCGR3B GAA GAPDH HPGDS HPSE HSPG2 MBL2 MLYCD OGA PLA2G12B PLA2G1B PLA2G2A PLA2G6 PLA2R1 PLB1 PPT2 SDC2 TBXAS1 VTCN1	10724 10855 1272 151056 1577 1589 1636 2023 2131 2132 2215 22925 231 23417 2548 2597 27306 3339 4153 5319 5320 6383 6916 79679 8398 84647 9374	Homo sapiens (human)
DOID:12594	Potter's syndrome Aliases: Potter sequence Potter syndrome	ACE DHCR24 DHCR7 FREM1 GAS1 GGT1 HS6ST1 NSDHL	158326 1636 1717 1718 2619 2678 50814 9394	Homo sapiens (human)
DOID:2583	agammaglobulinemia Aliases: IGHM hypogammaglobulinemia mu heavy chain deficiency	ABO AGPS CD55 FCER2 IDS MOGS NT5E PIK3CD PNP SLC17A5	1604 2208 26503 28 3423 4860 4907 5293 7841 8540	Homo sapiens (human)
DOID:0110518	autosomal recessive nonsyndromic deafness 67 Aliases: DFNB67 autosomal recessive deafness 67	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:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)
DOID:786	laryngeal 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:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:4784	immune-complex glomerulonephritis Aliases: Immune Complex Glomerulonephritis	LGALS9	3965	Homo sapiens (human)
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	EFNA5 FH GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2271 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:0060640	ethylmalonic encephalopathy	ALDH3A2 ANXA5	224 308	Homo sapiens (human)
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	ACACA ACE AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALOX5 ALPI ALPP ARSD CAT CD44 CD48 CD55 CD74 CHST3 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP4F3 DCN DHRS11 ENO1 ENPP1 ENPP3 EXTL3 FCGR3B GALNT3 GALNT6 GALT GBA1 GPNMB GPX3 HAS1 HK1 HPGDS HPRT1 HPSE HS3ST3B1 HSD11B2 HSD17B1 HSD17B2 HSD17B3 HSD17B7 HSD3B1 HSD3B2 HYAL2 ICAM1 IL18R1 IL1R1 IL1RAP IMPA2 KLRC1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LIPG MRC1 NCAM1 OGG1 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB1 PLCB4 PPT1 PSMD10 PTEN PTGES PTGS2 SDC4 SELE SELL SIGLEC7 SLC2A3 SLC2A4 SLC33A1 SMPDL3A SRD5A1 SRD5A2 STS SULF2 SULT1E1 TECR UST VCAM1 VCAN	10090 10457 10855 10924 11226 120227 1312 142 1462 1543 1544 1545 1555 1557 1576 1583 1586 1588 1589 1604 1634 1636 1645 1646 2023 2137 2215 22914 231 23236 240 248 250 2591 2592 2629 27036 27306 2878 2923 3036 3098 31 3251 3283 3284 3291 3292 3293 3294 3383 3554 3556 3613 3821 3956 3958 3960 3965 3990 4051 412 414 4360 4684 4968 51478 5167 5169 5290 5291 5293 5294 5320 5332 5538 55959 5716 5728 5743 6385 6401 6402 6515 6517 6715 6716 6783 7412 79154 847 8644 8692 8809 9197 9388 9469 9524 9536 960 962 972 9953	Homo sapiens (human)
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ABO ACACA ACE ACOT7 ADIPOQ AGA APOD ATP6AP2 B3GAT1 CAT CD209 CD44 CYB5R4 CYP19A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP7A1 DCN DGAT1 ENPP1 FADS1 FASN FCN2 FCN3 FOLR2 G6PC1 G6PC2 GAD1 GAD2 GAS1 GCK GGT1 GLO1 GPX1 GYS2 HKDC1 HPSE2 HSD11B1 HSD11B2 HSPG2 ICAM1 IL1R1 INS KLB LCT LDHA LEP LGALS1 LIPG LPIN1 LPL MBL2 MCAT MGAT1 MGAT2 MGLL MICA NAMPT NANS OGA OGG1 OLR1 PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PLA2G7 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS2 RBP4 SCD SDHC SFTPC SLC2A2 SLC2A3 SLC2A4 SOAT1 ST3GAL4 ST6GALNAC3 VCAM1	100507436 10135 10159 10724 11332 11343 120227 152831 1545 1581 1588 1591 1594 1634 1636 175 200576 2194 2220 23175 2350 2538 256435 2571 2572 2619 2645 2678 27087 27349 2739 28 2876 2998 30835 31 3290 3291 3339 3383 347 3554 3630 3938 3939 3952 3956 3992 4023 4153 4245 4247 4968 4973 5105 51167 5167 5290 5291 5293 5294 54187 5563 57104 5728 5743 57818 5950 60495 6319 6391 6440 6484 6514 6515 6517 6646 7412 7941 80201 80339 847 8547 8694 9370 9388 960	Homo sapiens (human)
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:4464	collecting duct carcinoma Aliases: carcinoma of renal Collecting duct renal Medullary carcinoma renal carcinoma, collecting duct type	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:6228	peritoneal serous papillary adenocarcinoma Aliases: primary serous papillary carcinoma of peritoneum	CEACAM7	1087	Homo sapiens (human)
DOID:461	muscle benign neoplasm Aliases: Myomatous neoplasm Myomatous tumor muscle neoplasm muscle tissue neoplasm neoplasm of muscle	CDH13 FH	1012 2271	Homo sapiens (human)

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