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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 **4301 - 4325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:11212	hydrophthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:5810	adenosine deaminase deficiency Aliases: ADA	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:6458	cerebellar liponeurocytoma Aliases: Lipomatous Medulloblastoma	IDH1	3417	Homo sapiens (human)
DOID:9460	uterine corpus cancer Aliases: corpus uteri cancer	ABO ACAT1 ACE ACSS2 ADH7 AGPAT2 AKR1B10 AKR1B1 AKR1C1 AKR1C3 ALOX5 ANXA5 APRT ATP6AP2 BAAT BST2 C1GALT1C1 CACNA2D3 CALR CAT CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CHPT1 CHST15 CHST3 COMT CSPG4 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2E1 CYP3A4 CYP3A7 CYP4F3 DAG1 DCN DGKA DHCR24 DHDDS DHRS11 DOLPP1 EFNA2 ENO1 ENOSF1 EXT1 FASN FH FOLR1 FOLR2 G6PC1 GALNT6 GGT1 GLO1 GOLPH3 GPC3 GPCPD1 GPI HMMR HPGDS HPSE HS3ST2 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD3B1 HSD3B2 HYAL1 HYAL2 HYAL3 IDH1 IGF2R KLRC3 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LYPD5 MACROD1 MBD4 MBL2 MDH2 MGLL MRC1 MSLN MTAP MUTYH NCAM1 NDUFAB1 NEU1 NT5E NTHL1 OGG1 PARP1 PDIA3 PGAM2 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PRG2 PRKAA2 PSMD10 PTEN PTGES2 PTGS2 SCD SDC1 SDHB SDHC SDHD SGPL1 SIRT2 SIRT4 SIRT6 SLC2A3 SLC2A4 SMUG1 SOAT1 SPAM1 SRD5A2 ST6GALNAC1 STS SULT1E1 SULT2B1 TNFRSF10C TNKS2 TYMP UGT1A1 UGT2B17 UGT2B7 VCAN VTCN1	1012 10159 10232 1048 10555 10855 1087 1116 11226 11343 131 1312 142 1462 1464 151056 1543 1544 1545 1551 1555 1571 1576 1583 1586 1588 1591 1604 1605 1606 1634 1636 1645 1718 1890 1943 2023 2131 2194 2271 22933 231 23409 2348 2350 23583 23659 240 2538 2678 2719 27306 2739 28 2821 284348 28992 29071 2923 308 3161 3283 3284 3292 3294 3295 3373 3417 3482 353 38 3823 3897 3939 3956 3958 3965 4023 4051 412 4153 4191 4360 4507 4595 4684 4706 4758 4907 4913 4968 51363 51478 51548 5224 5230 5290 5291 5293 5294 5315 5319 5320 54658 5553 55556 5563 55799 55808 55902 56261 56994 570 57016 5716 57171 5728 5743 6319 6382 6390 6391 6392 64083 6515 6517 6646 6677 6716 6783 6820 684 7364 7367 79154 79679 79947 80142 80351 811 8372 8398 847 8630 8644 8692 8794 8879 8930 9469 960 9956	Homo sapiens (human)
DOID:4291	fibroepithelial basal cell carcinoma Aliases: Fibroepithelioma of Pinkus Fibroepithelioma of Pinkus type Pinkus tumor	BAAT	570	Homo sapiens (human)
DOID:0060160	childhood spinal muscular atrophy Aliases: spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:10159	osteonecrosis Aliases: Avascular necrosis of bone aseptic necrosis bone necrosis	ACE ALDH2 ARSB CAT CD14 CYP2C8 EXT1 EXT2 GBA1 KL LRP5	1558 1636 2131 2132 217 2629 4041 411 847 929 9365	Homo sapiens (human)
DOID:0110848	xeroderma pigmentosum group F Aliases: XP group F XP6 XPF xeroderma pigmentosum VI	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:7378	pituitary hypoplasia	SRD5A3	79644	Homo sapiens (human)
DOID:813	septic arthritis Aliases: infectious arthritis	ACAN ACLY ACSS2 FUT4 PLA2G15 SMUG1	176 23583 23659 2526 47 55902	Homo sapiens (human)
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:1036	chronic leukemia	HMMR	3161	Homo sapiens (human)
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SYNJ1	8867	Homo sapiens (human)
DOID:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	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:6228	peritoneal serous papillary adenocarcinoma Aliases: primary serous papillary carcinoma of peritoneum	CEACAM7	1087	Homo sapiens (human)
DOID:10792	chronic maxillary sinusitis Aliases: chronic antritis	NT5E	4907	Homo sapiens (human)
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)
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ACAT1 ACE ADIPOQ CAT CHGA CPT1A CYP1A1 CYP2C8 CYP3A5 ENPP1 GHRL GLO1 ICAM1 KL LCAT LEP LIPC LPIN1 LPL MBL2 OLR1 PLA2G7 PLAUR SELL SOAT2 TLR2 TLR4 TNF UCP2	1113 1374 1543 1558 1577 1636 23175 2739 3383 38 3931 3952 3990 4023 4153 4973 5167 51738 5329 6402 7097 7099 7124 7351 7941 8435 847 9365 9370	Homo sapiens (human)
DOID:0110558	autosomal dominant nonsyndromic deafness 2A Aliases: DFNA2A autosomal dominant deafness 2A	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:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	ABO ACACA ACADL ACOT7 ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AGK AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKT1 ALDH2 ALDH7A1 ALG3 ALOX12 ALOX15 ALOX5 ANXA5 APRT BAAT BST2 C1GALT1 CACNA2D3 CALR CD14 CD44 CDH13 CEACAM5 CEACAM7 CHI3L1 CHKA CHPT1 CHST15 CNTN1 COMT CPT1A CYP11A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP3A5 DCTD DGKA DHDDS DHDH EFNA1 FASN FUT4 G6PD GALNT14 GALNT7 GAPDH GBE1 GCNT2 GLO1 GOLPH3 GPC1 GPD2 GPX3 HAS3 HK2 HMGCS2 HPGDS HPSE ICAM1 IDH1 IDH2 KAT2B KLRK1 L1CAM LDHA LDHB LGALS9 LY6K LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MICA MRC1 MTAP MUTYH NEIL1 NT5E OGG1 OPCML PARG PARP1 PARP4 PDHA1 PFKFB3 PGD PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G2A PLA2G4A PLCD1 PLCE1 PRSS8 PTEN PTGES2 PTGES PTGS1 PTGS2 RECK RPN2 SDC2 SHMT1 SHMT2 SIGLEC7 SIRT4 SLC27A5 SMUG1 SOAT1 SPHK1 SQLE SRGN ST6GALNAC1 TIGAR TKTL1 TP53 TPI1 TUSC3 TYMP UGT1A1 UGT1A8 UGT2B17 UGT2B4 UMPS UNG UPP1 VTCN1	100507436 1012 10195 10327 1048 10747 10855 1087 10998 1116 1119 11332 124 125 126 127 1272 128 131 1312 1374 142 143 1543 1544 1545 1555 1557 1559 1571 1576 1577 1583 1591 1606 1635 1645 1646 1890 1942 207 217 2194 22914 23409 23583 239 240 246 2526 2539 2597 2632 2651 27036 27294 27306 27349 2739 28 2817 2820 284348 2878 3038 308 3099 31 3158 33 3383 3417 3418 353 3897 3939 3945 3965 4153 4360 4507 4595 4907 4968 4978 501 51196 51363 5160 51809 5209 5226 5287 5290 5291 5293 5294 5315 5320 5321 5333 54576 54658 54742 5552 55750 55799 55808 55902 5648 5652 56913 56994 570 57016 57103 5728 5742 5743 6185 6383 64083 6470 6472 6646 6713 684 7157 7167 7363 7367 7372 7374 7378 79623 79661 79679 7991 79947 80142 811 8277 8434 8505 8850 8877 8930 929 9536 960	Homo sapiens (human)
DOID:0050697	chorioamnionitis	ACAN CBR1 CD14 CYP1A1 IL1RL1 LGALS3 MBL2 PGP PTGS1 PTGS2 RECK STS TNF	1543 176 283871 3958 412 4153 5742 5743 7124 8434 873 9173 929	Homo sapiens (human)
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	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:3007	breast ductal carcinoma Aliases: duct carcinoma	AKR1C3 ALDOA ALOX15 CD109 CD44 CRLS1 HPGDS HSD17B7 NEU1 PCYT1B PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE SMUG1 SULF1 TEX101 VTCN1	135228 226 23213 23583 246 27306 2923 4758 51478 5290 5291 5293 5294 54675 5728 5743 6382 6401 79679 83639 8644 9468 960	Homo sapiens (human)
DOID:12802	mucopolysaccharidosis I Aliases: Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease	AGA ARSB CAT CTSA FUCA1 FUT1 GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA MAN2B1 NAGLU NEU1 SGSH SUMF1	10020 138050 175 2517 2523 2720 2799 285362 2990 3423 3425 411 4125 4669 4758 5476 6448 79158 84572 847	Homo sapiens (human)

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