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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 **3426 - 3450** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0090037	torsion dystonia 13	ALDH5A1	7915	Homo sapiens (human)
DOID:0111936	immunodeficiency 14 Aliases: APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation	PIK3CD	5293	Homo sapiens (human)
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	ABO ACE ADH5 ANXA5 ATP6AP2 CALR CD14 COMT CYP11B2 CYP2C9 DGKI HSD11B2 IL18R1 KLRB1 LPL MBL2 PTGS1 PTGS2 SORD	10159 128 1312 1559 1585 1636 28 308 3291 3820 4023 4153 5742 5743 6652 811 8809 9162 929	Homo sapiens (human)
DOID:0060252	sclerocornea Aliases: isolated congenital sclerocornea	ARSD EFNA5 FIG4	1946 414 9896	Homo sapiens (human)
DOID:11156	anhidrosis Aliases: Adiaphoresis absence of sweating	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)
DOID:0090103	Huntington's disease-like 1 Aliases: HDL1 HLN1 Huntington disease-like 1 Huntington-like neurodegenerative disorder 1 autosomal dominant Huntington-like neurodegenerative disorder early-onset prion disease with prominent psychiatric features	ABAT ACE ACHE ACO1 ACO2 ACSBG1 ALDH7A1 ALOX5 ALPI ALPP APRT ATRNL1 CAT CD14 CERS1 CHAT CHI3L1 CNTN1 COMT CS CYP3A4 CYP46A1 DGKE DHCR24 FCGR3B GAD2 GAPDH GBA2 GLO1 GPX6 GPX7 GYS1 HACD1 HJV HPGDS HSD17B6 IDH1 IDUA IPMK KL LGALS3 LPL MBL2 MGLL MRC1 MUTYH NAAA NCAM1 NT5E OGG1 PARP1 PC PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PNP PPT1 PRKAA2 PRNP PTGS2 QPRT RENBP SGPL1 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC39A8 SMUG1 SPHK1 SPHK2 SPTLC1 ST8SIA4 STS TM7SF2 TMED9 UGT1A1	10558 10715 10858 1103 1116 11343 1272 1312 142 1431 148738 1576 1636 1718 18 2215 22933 23205 23475 23583 240 248 250 253430 2572 257202 2597 26033 27036 27163 27306 2739 2882 2997 3417 3425 353 3958 4023 412 4153 43 4360 4595 4684 48 4860 4907 4968 50 501 5091 51548 5226 5290 5291 5293 5294 5335 54658 54732 5538 5563 5621 56848 5743 57704 5973 64116 6515 6517 7108 7903 847 8526 8630 8877 8879 9200 929 9365	Homo sapiens (human)
DOID:0110438	dilated cardiomyopathy 1JJ Aliases: CMD1JJ	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0050853	chronic venous insufficiency	CAT	847	Homo sapiens (human)
DOID:5660	lymphoepithelioma-like carcinoma Aliases: Nasopharyngeal type Undifferentiated carcinoma lymphoepithelial carcinoma	PIK3CA SMUG1	23583 5290	Homo sapiens (human)
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	GPC1	2817	Homo sapiens (human)
DOID:2320	obstructive lung disease Aliases: respiratory airway obstruction	ACOT7 ALPI ALPP CAT GLA LTC4S MBL2 SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10	11332 248 250 2717 4056 4153 6440 6441 653509 729238 81031 847	Homo sapiens (human)
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	AGRN	375790	Homo sapiens (human)
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux 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: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:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:13724	scurvy	AKR1A1 HPGDS RGN	10327 27306 9104	Homo sapiens (human)
DOID:5139	cellular leiomyoma	LDHA	3939	Homo sapiens (human)
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	CEACAM5 CEACAM7	1048 1087	Homo sapiens (human)
DOID:439	neuromuscular junction disease	ACHE GAD2 GFPT1 IDH3A	2572 2673 3419 43	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4 Aliases: AI2A4 amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:2373	hereditary elliptocytosis Aliases: Congenital elliptocytosis ovalocytosis	ACSL4 ALDOA ALPL ALPP ATRNL1 CAT CD55 ENPP1 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 249 250 2539 26033 2821 3098 4706 5167 5313 7167 7368 847	Homo sapiens (human)
DOID:2658	dermoid cyst Aliases: Dermoid choristoma Dermoid tumour Mature cystic teratoma cystic dermoid choristoma teratoma, benign	AKR1C3 PKD1 PLA2G4A PTGS2 SDC1 TMTC3	160418 5310 5321 5743 6382 8644	Homo sapiens (human)
DOID:743	dermatographia Aliases: dermatographic urticaria dermographism	PIGT	51604	Homo sapiens (human)
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ABO ACACA ACE AGK AGPS AKR1C2 ALOX12 ALOX15 AMACR ANXA5 APRT ARSA ASAH1 BAAT CAT CD1D CD44 CD74 CD93 CEACAM5 CNTN1 CYB5R3 CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP3A4 DCN DPEP1 ENPP2 FH FUCA1 G6PD GAPDH GFRA1 GLB1 GPC3 GPD2 GPLD1 GPX1 GPX3 GUSB HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL1R1 INPP4B KL KLB L1CAM LDHA LGALS16 LGALS1 LGALS3 MBL2 MICA MINPP1 MRC1 MUTYH NAMPT NCAM1 NTHL1 PARP1 PARP4 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2R1 PRKAA2 PTEN PTGDS PTGES2 PTGES3 PTGS1 PTGS2 QPRT RECK RPIA SCD SDC1 SDC2 SDC4 SDHB SDHC SDHD SIRT4 SLC2A3 SMUG1 SOAT1 SORD SPHK1 TKTL1 ULBP2 UPP1 VCAN VTCN1	100507436 10135 1048 10728 10855 1272 142 143 1462 148003 152831 1543 1555 1576 1588 1591 1594 1634 1636 1646 1727 1800 2271 22918 22925 22934 23409 23475 23583 23600 239 246 2517 2539 2597 2674 2719 2720 27306 28 2820 2822 2876 2878 2990 308 31 3251 3339 3383 3417 3418 3425 3482 353 3554 3897 3939 3956 3958 410 4153 427 4360 4595 4684 4913 5168 5209 5290 5291 5293 5294 5315 5563 55750 570 5728 5730 5742 5743 6319 6382 6383 6385 6390 6391 6392 6515 6646 6652 7378 79679 80142 80328 8277 8434 847 8540 8821 8877 912 9365 9562 960 972	Homo sapiens (human)

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