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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 **4876 - 4900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4591	lymphoplasmacyte-rich meningioma Aliases: Lymphoplasmocyte-rich meningioma	ALDH1A3 ALOX5 CD44 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 FASN GPX1 HPGDS HPRT1 IL18R1 LARGE1 MUTYH OGA PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SOAT1 TNKS	10724 151056 1543 1545 1588 1718 2194 220 240 27306 2876 3251 4051 4595 5290 5291 5293 5294 5329 5728 5730 5742 5743 6646 8658 8809 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110846	xeroderma pigmentosum group E Aliases: XP group E XP5 XPE xeroderma pigmentosum V	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	CEL EHHADH GCK HADH HAO1 HAO2 KCNJ11 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3767 4351 51179 5236 5373 54363 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)	DisGeNET
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:4346	variegate porphyria Aliases: Protocoproporphyria Protoporphyrinogen oxidase deficiency	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	ACE AKT1 ALOX5 ALPI ALPP ANXA5 ATP6AP2 B3GAT3 CD248 CD55 CEACAM5 CEACAM7 CEL CEMIP CHI3L1 CTSA CYP2C9 DCN ELOVL6 ENPP2 FCGR3B FOLR2 GGT1 GLB1 HK2 HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NT5E PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PRKAA2 PTEN PTGS1 PTGS2 SDC1 SDC2 SDC4 SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 1087 10998 1116 142 1462 1559 1604 1634 1636 207 2215 22914 2350 23583 240 248 250 253558 26229 2678 2720 308 3099 3383 3897 3939 3956 3958 4048 4350 4360 4758 4907 51548 5168 5290 5291 5293 5294 5310 5311 5476 5563 55959 57124 57214 5728 5742 5743 6382 6383 6385 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8482 8809 8877 90161 9173 9365 9394	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:624	transient hypogammaglobulinemia of infancy	FCGR3B	2215	Homo sapiens (human)	DisGeNET
DOID:0111368	cholesterol-ester transfer protein deficiency Aliases: CEPT deficiency familial hyperalphalipoproteinemia	GALNT2 LCAT LIPC LIPG LPL	2590 3931 3990 4023 9388	Homo sapiens (human)	DisGeNET
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	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)	DisGeNET
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	CEL EHHADH GCK HADH HAO1 HAO2 HK2 HK3 HKDC1 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3099 3101 4351 51179 5236 5373 54363 80201 8050	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2942	bronchiolitis	ATP6AP2 CD14 CD38 FUT2 ICAM1 IL1RL1 ISYNA1 KLRK1 MBL2 PLCG2 PTGDS SFTPA1 SFTPD	10159 22914 2524 3383 4153 51477 5336 5730 6441 653509 9173 929 952	Homo sapiens (human)	DisGeNET
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APEX1 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 FOLR1 G6PD GALNT7 GAPDH GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MELTF MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TIPARP TKT TKTL1 TM7SF2 TNFRSF10C TYMP UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 138429 142 1543 1545 1571 1588 1604 1634 1636 1718 1890 1943 2203 22914 22933 2348 23583 248 250 2539 2597 25976 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 328 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4241 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7086 7108 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8877 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)	DisGeNET
DOID:6217	gastric diffuse adenocarcinoma	OGG1	4968	Homo sapiens (human)	DisGeNET
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	ACADM CD55 CHPT1 CPT1A CPT1B CPT2 IMPA1 LFNG MBL2 PNPLA2 SCD5 SCD SFTPD	1374 1375 1376 1604 34 3612 3955 4153 56994 57104 6319 6441 79966	Homo sapiens (human)	DisGeNET
DOID:0110526	autosomal recessive nonsyndromic deafness 79 Aliases: DFNB79 autosomal recessive deafness 79	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)	DisGeNET
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	ACSBG1 ADH1C ALDH2 ARSA B3GALT4 CAT COMT FH GALC GAPDH GBA1 GLA KL NTM OGG1 PAFAH1B1 PLA2G6 PSAP PTGDS PTGS2 SARM1 SLC17A5 SMPD1 ST3GAL2 VCAM1	126 1312 217 2271 23098 23205 2581 2597 2629 26503 2717 410 4968 5048 50863 5660 5730 5743 6483 6609 7412 8398 847 8705 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050833	orotic aciduria	UMPS	7372	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0080188	chronic myelomonocytic leukemia	ACHE CD14 ETNK1 FCGR3B FUT4 LYZ MOGS PAFAH1B1 PARP1 SOAT1 XYLT2	142 2215 2526 4069 43 5048 55500 64132 6646 7841 929	Homo sapiens (human)	DisGeNET
DOID:2722	acrodermatitis	ACE AGA AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD44 CD74 CERS3 CHI3L1 CLEC10A COL9A2 COMT ELOVL1 ELOVL6 FDFT1 HPGDS HPSE ICAM1 IL1R1 IL1RL2 LGALS3 LGALS9 MBL2 MRC1 NAAA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLAUR PLCB3 POFUT1 PTGDS PTGS2 SDC1 SLC17A5 SOAT1 VCAM1	10462 10855 1116 1298 1312 135228 142 1636 175 189 204219 2222 224 23509 240 26503 27163 27306 3383 347527 353 3554 3958 3965 4153 432 4360 501 5290 5291 5293 5294 5319 5321 5329 5331 5730 5743 6382 64834 6646 7412 79071 811 847 8644 8808 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:12306	vitiligo	ABO ACE ACHE ALOX12 C1GALT1C1 CALR3 CALR CANX CAT CBR1 CD44 COMT CYP21A2 FADS1 FADS2 G6PD GPX1 HPGDS ICAM1 IL1RAPL1 ISYNA1 KLRC1 MBL2 NEU1 PARP12 PARP1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PLCG2 PRNP PTGS2 SOAT1 TLR2 TLR4 TNF	11141 125972 1312 142 1589 1636 239 2539 27306 28 283871 2876 29071 3383 3821 3992 4153 43 4758 51477 5226 5290 5291 5293 5294 5331 5336 5621 5743 64761 6646 7097 7099 7124 811 821 847 873 9415 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050734	congenital intrinsic factor deficiency Aliases: hereditary intrinsic factor deficiency	CLEC7A CYP2C19	1557 64581	Homo sapiens (human)	DisGeNET
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	CD14 CYP3A4 LYZ PCNA PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 UCP2 VCAM1	10908 1576 4069 5111 5290 5291 5293 5294 7351 7412 929	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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