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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 **4576 - 4600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:5605	breast medullary carcinoma Aliases: Medullary breast carcinoma with lymphoid Stroma	MGLL	11343	Homo sapiens (human)	DisGeNET
DOID:4617	periapical granuloma Aliases: Apical granuloma	B3GAT1 ICAM1 LGALS1 PTGS2 SIRT2	22933 27087 3383 3956 5743	Homo sapiens (human)	DisGeNET
DOID:14286	neurogenic arthropathy Aliases: Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy	ACAN ALOX5 CD14 CHI3L1 CHST3 CNTN2 CPT2 DCN DHCR24 ENPP1 GPI HJV HK1 IL1R1 LGALS3 MBL2 PTGS1 PTGS2 SFTPD SMUG1 VCAN VTCN1	1116 1376 1462 148738 1634 1718 176 23583 240 2821 3098 3554 3958 4153 5167 5742 5743 6441 6900 79679 929 9469	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0090022	split hand-foot malformation 5 Aliases: SHFM5	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:4284	anal margin carcinoma Aliases: Perianal skin carcinoma	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1115	sarcoma Aliases: connective and soft tissue neoplasm tumor of soft tissue and skeleton	ACAN ACSL3 ACSL4 ANXA5 ARSF B3GAT1 CD109 CD14 CD1D CD248 CD38 CD44 CEL CHSY1 CMAS COL9A2 CSPG4 CYP3A4 DCN DHCR24 ENPP2 EXTL3 FBP2 FCGR3B GLUL GPC3 GPC5 HK2 HPRT1 HPSE IDH1 IDH2 ISYNA1 KLRK1 LGALS1 LSS MRC1 MTAP NANS NCAM1 OGA OS9 PARP1 PARP9 PDHX PIK3CA PIK3CB PIK3CD PIK3CG PLAUR PLD2 PLPP2 PTEN PTGS2 SDHA SDHB SDHC SELP SIRT2 SLC27A5 SMUG1 STS TM7SF2 TP53 UGT1A1	1056 10724 10855 10956 10998 1298 135228 142 1464 1576 1634 1718 176 2137 2181 2182 2215 2262 22856 22914 22933 23583 27087 2719 2752 308 3099 3251 3417 3418 3956 4047 412 416 4360 4507 4684 51477 5168 5290 5291 5293 5294 5329 5338 54187 54658 55907 57124 5728 5743 6389 6390 6391 6403 7108 7157 8050 83666 8612 8789 912 929 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3 Aliases: AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110881	holoprosencephaly 1 Aliases: HPE1	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060548	luminal breast carcinoma A Aliases: Luminal A Breast Carcinoma	ACACA CDH13 CYP19A1 CYP7B1 FASN GLCE H6PD HMMR IDH2 IL18R1 PARP1 PDHB PGLS PIK3CA PLCG1 PTEN SMUG1	1012 142 1588 2194 23583 25796 26035 31 3161 3418 5162 5290 5335 5728 8809 9420 9563	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110423	dilated cardiomyopathy 1C Aliases: CMDC1 dilated cardiomyopathy 1C with or without left ventricular noncompaction	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:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	FCER2 FUT1 G6PC3 G6PD PGK1 PKD2	2208 2523 2539 5230 5311 92579	Homo sapiens (human)	DisGeNET
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9810	polyarteritis nodosa	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GFRA1 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 2674 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)	DisGeNET
DOID:2632	papillary serous adenocarcinoma Aliases: Micropapillary serous carcinoma Papillary serous carcinoma serous surface papillary carcinoma	CEACAM5 CEACAM7	1048 1087	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7843	female breast carcinoma Aliases: Mammary carcinoma of female breast	ALDH2 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 MUTYH OGG1 PIK3CA PTEN	1312 1543 1545 1586 1588 217 4595 4968 5290 5728	Homo sapiens (human)	DisGeNET
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)	DisGeNET
DOID:2282	hidradenitis Aliases: Hydradenitis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)	DisGeNET
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	ALG12 ALG13 ALG3 ALG8 COG6 COG8 DPAGT1 EXT2 ICAM1 MPI PMM2 RFT1 SLC35A2 ST3GAL5 TMEM199	10195 147007 1798 2132 3383 4351 5373 57511 7355 79053 79087 79868 84342 8869 91869	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	ACSL4 AKR1B1 ANXA7 ARSA CD44 CEACAM5 CEACAM7 CYP1A1 CYP24A1 CYP3A4 DHRS11 DLD FUT10 FUT2 FUT3 FUT4 GALNT6 HSD17B7 LDHA LGALS3 LGALS4 MUTYH PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PLB1 PLCB1 PLD2 PTGS2 SDC2 SLC2A5 SLC5A1 SOAT1 ST6GAL1 SULT1E1 TM7SF2 UGT1A1	1048 1087 11226 151056 1543 1576 1591 1738 2182 231 23236 2524 2525 2526 283871 310 3939 3958 3960 410 4595 51478 5290 5291 5293 5294 5320 5329 5338 54658 5743 6383 6480 6518 6523 6646 6783 7108 79154 8399 84750 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	ABO LGALS3 OGG1 PLA2G1B SMUG1	23583 28 3958 4968 5319	Homo sapiens (human)	DisGeNET
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	ACE ACER3 ACHE ACO1 ACSL3 AKR1B10 ALDH1A3 ALDH3A1 ALDH7A1 ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 ANXA9 APRT ARSB ART3 ASAH1 B3GAT1 B4GALNT1 BRAF BST2 CALR CANX CAT CD14 CD1D CD22 CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS2 CERS6 CH25H CHI3L1 CLEC10A CLEC14A CLEC1B CMAS CPT1A CPT1C CRYBG1 CSGALNACT1 CSPG4 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2E1 CYP2R1 DBT DERA DGKA DGKI DHCR24 EBP ECHDC1 EDEM1 EFNA1 ELOVL2 ENO2 ENPP1 FASN FCGR3B FDFT1 FDPS FOLR2 FUT1 FUT2 FUT4 FUT8 G6PD GALC GALNT14 GALNT3 GAPDH GAPDHS GAS1 GBE1 GCNT2 GCNT3 GFRA1 GGT1 GLB1 GLO1 GLT8D1 GNS GOLPH3 GPAM GPAT2 GPC3 GPC6 GPLD1 GPNMB GPX1 GPX3 HADHB HAS2 HAS3 HK1 HMGCL HPGDS HPRT1 HPSE HS2ST1 HS3ST5 HSD11B1 HSD11B2 HSD17B12 HSPG2 HYAL2 ICAM1 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RAPL1 INPP4B INPP5D INPP5E INPP5K ISYNA1 KL KLRB1 KLRC1 KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LTA4H LYPD5 LYPLA1 LYPLA2 MAG MCAT MDH2 MELTF MGAT5 MGLL MICA MMP25 MOGS MPG MPPE1 MRC1 MTAP MUTYH NAMPT NCAM1 NEU1 NGLY1 NT5E OGG1 OS9 PARP1 PC PCK2 PCYT1A PDHB PDIA3 PFKFB2 PFKFB3 PFKFB4 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB2 PLCB4 PLD1 PNP PNPLA2 PPARGC1A PPP1R3B PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 PYGM RECK RPE RTN4R SCD5 SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SEMA7A SGMS1 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC33A1 SMPD1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GALNAC2 ST8SIA1 STS SULF1 TKTL1 TLR4 TMED5 TNFRSF10C TP53 TPI1 UGT8 VCAM1 VCAN VTCN1	100507436 10082 1012 10135 10434 10457 10462 1048 10610 10682 10855 1087 10891 10956 11141 1116 11313 11343 120227 126129 128869 1374 142 1462 1464 150763 1545 1555 1571 1588 1589 1591 1594 1606 161198 1629 1636 1718 1942 202 2026 218 2181 2194 220 2215 2222 2224 222537 22914 22933 23213 2350 23583 23600 239 240 248 250 2523 2524 2526 2530 253782 2539 2581 2583 2591 259230 2597 2619 2632 26330 26503 2651 2674 2678 27036 27087 27180 2719 2720 27306 27349 2739 2799 2822 284348 2876 2878 2923 29956 3032 3037 3038 308 3098 310 3155 3251 3290 3291 3339 3383 3417 3418 3425 3482 353 3635 3820 3821 3897 3939 3956 3958 3965 3988 4048 4099 411 412 419 4191 4241 4249 427 43 4350 4360 4507 4595 4684 4758 48 4860 4907 4968 501 5091 50999 5106 51071 51144 51266 5130 51477 51548 5162 5167 51763 5208 5209 5210 5230 5289 5290 5291 5293 5294 5305 5310 5315 5319 5320 5321 5329 5330 5332 5337 54898 55331 5563 55768 55790 55830 55862 55907 5621 56623 57016 57104 57124 5716 5728 5730 5742 5743 57678 5837 6120 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 64083 64386 6484 6489 65078 6514 6515 65258 6609 6614 6646 6677 673 684 7099 7157 7167 7368 7412 7841 79623 79660 79679 79966 811 821 8277 8398 8416 8434 847 8482 8692 8794 8809 8821 9023 912 9162 9197 9245 929 933 9365 952 9536 960 9653 9695 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)	DisGeNET
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	APRT ASAH1 CBR3 CD177 CD44 CDH13 CEACAM5 CEACAM7 CEMIP CYP24A1 CYP27B1 EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SDHD SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1591 1594 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 427 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 57126 5716 57214 5728 5743 5973 6120 6392 6646 80328 874 8803 9388 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110404	retinitis pigmentosa 17 Aliases: RP17	CA4	762	Homo sapiens (human)	DisGeNET

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