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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3926 - 3950** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)
DOID:8628	Hodgkin's lymphoma, lymphocytic depletion Aliases: Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's lymphocytic depletion of unspecified site Lymphocyte-Depleted Classical Hodgkin Lymphoma	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:0050789	tarsal-carpal coalition syndrome	ABO ALOX5 CD44 CDH13 CYB5R3 GAPDH GLB1 HPGDS MRC1 NEU1 PLAUR PRSS8 PTEN PTGS2 TM7SF2 TNKS UPP2	1012 151531 1727 240 2597 2720 27306 28 4360 4758 5329 5652 5728 5743 7108 8658 960	Homo sapiens (human)
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	ABO ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACO2 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 CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLO1 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 ME1 MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKD1 PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD 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 UGT2B7 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 1584 1585 1586 1591 1594 1605 1634 1636 170384 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 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 2739 28 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 4199 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 50 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5310 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 6646 6652 684 7108 729920 7364 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 952 960 9672 972 98	Homo sapiens (human)
DOID:0110569	autosomal dominant nonsyndromic deafness 44 Aliases: DFNA44 autosomal dominant deafness 44	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:0110532	autosomal recessive nonsyndromic deafness 86 Aliases: DFNB86 autosomal recessive deafness 86	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:13133	HELLP syndrome	GAPDH HADHA HPGDS HSPG2 IL18R1 MBL2 SIRT4 SLC17A5	23409 2597 26503 27306 3030 3339 4153 8809	Homo sapiens (human)
DOID:0060400	chromosome 16p12.2-p11.2 deletion syndrome Aliases: 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:5574	VIPoma Aliases: VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor Vipoma, malignant malignant vasoactive intestinal peptide-secreting tumor	SMUG1	23583	Homo sapiens (human)
DOID:599	specific phobia Aliases: simple phobia	CAT DDOST	1650 847	Homo sapiens (human)
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	IDH1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN TMED3	142 23423 3417 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0080822	aspirin-induced respiratory disease Aliases: aspirin-sensitive asthma	PTGS2	5743	Homo sapiens (human)
DOID:2101	vulva squamous cell carcinoma Aliases: Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma	CD44 PIK3CA	5290 960	Homo sapiens (human)
DOID:0050850	diabetic encephalopathy	GSK3B	2932	Homo sapiens (human)
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)
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	MAG	4099	Homo sapiens (human)
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	ACAN COMT HPGDS MMP25	1312 176 27306 64386	Homo sapiens (human)
DOID:12919	Plasmodium ovale malaria Aliases: Malariaby Plasmodium ovale Ovale malaria	G6PD	2539	Homo sapiens (human)
DOID:0090089	hypogonadotropic hypogonadism 10 with or without anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0060422	chromosome 6pter-p24 deletion syndrome Aliases: 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
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)
DOID:3720	extramedullary plasmacytoma Aliases: extraosseous plasmacytoma plasmacytoma, extramedullary	CAT CD38 ICAM1 LPL NCAM1 PCYT1A PIGA PTEN SDC1 SMUG1 SOAT1	23583 3383 4023 4684 5130 5277 5728 6382 6646 847 952	Homo sapiens (human)
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	ABO ADIPOQ SELL TP53	28 6402 7157 9370	Homo sapiens (human)

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