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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 **4201 - 4225** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	AKR1C1 AKR1C2 CACNA2D1 MMP25 TMEM165	1645 1646 55858 64386 781	Homo sapiens (human)
DOID:4308	polyradiculoneuropathy	B3GAT1 MAG	27087 4099	Homo sapiens (human)
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	CEACAM5 FUT4 MCAT NTM	1048 2526 27349 50863	Homo sapiens (human)
DOID:10952	nephritis	ABO ACACA ACACB ACE ACSL1 ACSL4 AGPAT2 AKR1B1 ALG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD38 CD44 CD48 CD74 CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A5 DCN DDOST DGKE DLST ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FADS2 FAR2 FCGR3B FCN2 FH FMOD G6PC1 G6PD GAD1 GAD2 GALNS GAPDH GAS1 GCK GFPT1 GLA GLO1 GPC5 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LAYN LCAT LGALS1 LGALS3 LGALS9 LIPC LPIN2 LTC4S LYZ MASP1 MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 NEIL3 NEU1 OCRL OGA OGG1 PAFAH1B1 PARP1 PC PIK3CG PKD1 PKD2 PKM PLA2G1B PLA2G2A PLA2R1 PLAUR PLB1 PLCE1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SFTPD SIGLEC1 SIGLEC7 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SMUG1 SOAT1 SORD SPHK1 ST8SIA4 STS SULT1E1 TBXAS1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 143903 1462 1497 151056 1555 1557 1558 1559 1571 1573 1577 1588 1591 1594 1634 1636 1650 1743 2023 2026 2053 2180 2182 2215 2220 2262 2271 22908 22925 231 2331 23417 23583 239 240 246 249 2538 2539 2542 2571 2572 2588 2597 2619 2645 26503 2673 27036 2717 27293 2739 28 2878 29071 3037 3038 308 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3956 3958 3965 3990 4056 4069 410 412 4153 417 4191 4669 4684 4758 4952 4968 5048 5067 5091 51196 51548 5167 5294 5310 5311 5315 5319 5320 5329 55247 5563 55711 56052 5648 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 6403 64131 64132 6441 6514 6523 6614 6646 6652 6783 6916 7108 7367 7369 7412 78989 7903 79679 811 847 8526 8877 9104 9197 9365 9415 952 9536 960 962 9663 972	Homo sapiens (human)
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	CD44 COLGALT1 GPC1 GPC3 GPC5 GPC6 HPRT1 NAMPT PIGA SLC2A4	10082 10135 2262 2719 2817 3251 5277 6517 79709 960	Homo sapiens (human)
DOID:4795	GM2 gangliosidosis, AB variant Aliases: Tay-Sachs disease AB variant Tay-Sachs disease, variant AB	GM2A HEXA HEXB OGA	10724 2760 3073 3074	Homo sapiens (human)
DOID:9655	oral mucosa leukoplakia	ALDH2 CYP1A1 CYP1B1 CYP2E1 HPGDS LGALS1 LYZ OGG1 PTGS2 TP53	1543 1545 1571 217 27306 3956 4069 4968 5743 7157	Homo sapiens (human)
DOID:0060774	congenital diarrhea	ACSL5	51703	Homo sapiens (human)
DOID:0080210	primary mediastinal B-cell lymphoma Aliases: Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type	FCER2 FUT4 PIK3CA PIK3CB PIK3CD PIK3CG	2208 2526 5290 5291 5293 5294	Homo sapiens (human)
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	ICAM1 IL1R1 PSMD10 PTGS2 TLR2 TLR4 TNF TP53	3383 3554 5716 5743 7097 7099 7124 7157	Homo sapiens (human)
DOID:9808	Goodpasture syndrome Aliases: anti-GBM disease anti-glomerular basement membrane disease	ABO ACE B3GAT1 CEL CHI3L1 CYP19A1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1588 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:7061	obsolete precursor B lymphoblastic lymphoma/leukemia	PARP1	142	Homo sapiens (human)
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)
DOID:1963	fallopian tube carcinoma Aliases: cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca	MRC1	4360	Homo sapiens (human)
DOID:809	cocaine abuse	ABAT COMT EXTL3 FDFT1 GAD1 GAD2 HTR2A MANEA NPY1R NTNG1 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 RECK SMUG1 UMOD	1312 18 2137 2222 22854 23583 2571 2572 3356 4886 5290 5291 5293 5294 5563 7369 79694 8434	Homo sapiens (human)
DOID:5855	anteroseptal myocardial infarction	ACE CAT LGALS3 SLC2A4	1636 3958 6517 847	Homo sapiens (human)
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:3973	thyroid gland medullary carcinoma Aliases: Medullary carcinoma of the Thyroid gland Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour medullary thyroid carcinoma	APRT CBR1 CEACAM5 CEACAM7 CHGA CHPT1 CYP1A2 DHDDS FCN2 FUT4 G6PD GFRA1 GLB1 HK2 ICAM1 MCAT MRC1 NTM PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS1 PTGS2 RPIA SDHB SDHC SDHD SHMT1 SMUG1 SOAT1 SORD TYMP	1048 1087 1113 1544 1890 2220 22934 23583 2526 2539 2674 2720 27349 3099 3383 353 4360 4860 50863 5290 5291 5293 5294 56994 5742 5743 6390 6391 6392 6470 6646 6652 79947 873	Homo sapiens (human)
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	ENO2 GLB1 L1CAM PARP4 PIK3CA PTEN SDHB SDHC	143 2026 2720 3897 5290 5728 6390 6391	Homo sapiens (human)
DOID:9182	pemphigus	ACE CAT CD1D CYP21A2 FCN2 MBL2 MRC1	1589 1636 2220 4153 4360 847 912	Homo sapiens (human)
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly Aliases: SRTD14	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0050759	myotonic dystrophy type 2	ACE ACHE ALPP ATRNL1 CHI3L1 CNTN2 CYP2B6 CYP51A1 DAG1 FASN GAL3ST1 GCK HSPG2 IDS IL18R1 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 PRNP QTRT1 SELE SELP SI SLC2A4 SLC35A1 SLC35G1 ST8SIA4 UGT8	10559 1116 1555 159371 1595 1605 1636 2194 23236 250 26033 2645 283871 3339 3423 4023 43 4360 4534 5226 5286 5290 5291 5293 5294 5563 5621 6401 6403 6476 6517 6900 7368 7903 81890 8776 8809 8972 9514	Homo sapiens (human)
DOID:9621	non-congenital cyst of kidney	ALG8 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 PRKCSH PTEN UGCG	1056 2271 2719 3292 3295 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 79053	Homo sapiens (human)

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