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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 **3176 - 3200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110265	cataract 31 multiple types Aliases: CTRCT31	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:1099	alpha thalassemia Aliases: Alpha thalassaemia alpha-Thalassemia	COL9A2 G6PD GPX1 PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 2876 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0110763	hereditary spastic paraplegia 10 Aliases: SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10	B4GALNT1 CPT1C CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 126129 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	AKR1C4 ALDH2 CALR CD38 CD55 CHPT1 CNTN3 COG1 CYP2B6 DGCR2 DHDDS FREM1 G6PD GAS1 GYS2 IDUA LGALS1 LSS NT5E PARP1 SLC26A2	1109 142 1555 158326 1604 1836 217 2539 2619 2998 3425 3956 4047 4907 5067 56994 79947 811 9382 952 9993	Homo sapiens (human)
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	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:7551	gonorrhea Aliases: chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract	ABO CAT CD44 CEACAM5 FDPS INPPL1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SDC1 UMPS	1048 2224 28 3636 4706 5290 5291 5293 5294 5743 6382 7372 847 960	Homo sapiens (human)
DOID:0060277	pontocerebellar hypoplasia type 8	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:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	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:4931	nasal cavity carcinoma Aliases: cancer of nasal cavity	SMUG1	23583	Homo sapiens (human)
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	DGAT1	8694	Homo sapiens (human)
DOID:0110815	hereditary spastic paraplegia 64 Aliases: SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64	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:3454	brain infarction	ACE ADIPOQ ALDH2 CACNA2D1 CAT CHI3L1 CYP11B1 CYP11B2 CYP2R1 DLD GPLD1 GPNMB ICAM1 IGF2 LPL PARG PLD1 PLD2 SACM1L STS TBXAS1 TNF VCAM1	10457 1116 120227 1584 1585 1636 1738 217 22908 2822 3383 3481 4023 412 5337 5338 6916 7124 7412 781 847 8505 9370	Homo sapiens (human)
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ACE ACO2 ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD248 CD44 CD55 CEACAM5 CEACAM7 CEL CEMIP CHAT CHI3L1 CHIT1 CHST15 CTSA CYP27B1 CYP2C9 DCN DEGS1 ELOVL6 ENO1 ENPP2 FASN FCGR3B FOLR2 FUT8 GGT1 GLB1 HAS2 HK2 HPGDS HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 INPP5D KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G4A PLAUR PRKAA2 PTEN PTGS1 PTGS2 RECK SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SPHK2 SULF1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 10825 1087 10998 1103 1116 1118 142 1462 1559 1594 1604 1634 1636 2023 2194 2215 22914 23213 2350 23556 23583 240 248 250 2530 253558 26229 2678 27087 2720 27306 279 3037 308 3099 3383 353 3635 3897 3939 3956 3958 4048 410 427 4350 4360 4758 4907 4968 50 51363 51548 5168 5290 5291 5293 5294 5310 5311 5321 5329 5476 5563 55959 56848 57124 57214 5728 5742 5743 6382 6383 6385 6401 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8434 847 8482 8560 8809 8877 8879 90161 9173 9365 9394 960	Homo sapiens (human)
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	ACAN ACE ALPL APRT CAT CD55 CYP27A1 DCN ENOSF1 EXT1 FDPS G6PD GCK GGT1 GLO1 GUSB ICAM1 KL NEIL1 OGG1 PARP1 PLA2R1 PLB1 PRKAA2 PRPS1 SIRT2 SIRT6 SLC35G1	142 151056 1593 159371 1604 1634 1636 176 2131 2224 22925 22933 249 2539 2645 2678 2739 2990 3383 353 4968 51548 55556 5563 5631 79661 847 9365	Homo sapiens (human)
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABO ACE ALPP ATRNL1 B3GAT1 CD14 CD1D CD74 CLEC16A CNTN5 COG6 CYP21A2 CYP3A4 CYP7A1 DAG1 DBT DGCR2 DGKQ DLAT DLST FH GGT1 GLB1 HK1 HPGDS ICAM1 IL18R1 ITLN1 L1CAM LEP LEPR LGALS3 MANBA MBL2 OGDH PDHX PIK3CA PLCB1 PNPLA3 POGLUT1 PPARGC1A PTGS2 SOAT1 TNF UGT2B4 VCAM1 VTCN1	10891 1576 1581 1589 1605 1609 1629 1636 1737 1743 2271 23236 23274 250 26033 2678 27087 2720 27306 28 3098 3383 3897 3952 3953 3958 4126 4153 4967 5290 53942 55600 56983 5743 57511 6646 7124 7363 7412 79679 80339 8050 8809 912 929 972 9993	Homo sapiens (human)
DOID:0110747	type 1 diabetes mellitus 8 Aliases: IDDM8 Insulin-Dependent Diabetes Mellitus 8	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CLC CNTN1 CYP1B1 CYP3A4 DCN DHCR24 DLD DPEP1 ENPP7 FH FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS ICAM1 KL KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1545 1576 1604 1634 1718 1738 1800 192134 220 2271 22914 22934 23583 23659 246 250 2526 2539 2645 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5335 5336 54659 5563 55902 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 811 8398 8399 8658 873 9365 9536 960	Homo sapiens (human)
DOID:3133	acute porphyria Aliases: hepatic porphyria	CYP2B6	1555	Homo sapiens (human)
DOID:0110721	neuronal ceroid lipofuscinosis 1 Aliases: CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PARP1 PKD1 PPT1 PPT2 PSAP SCP2	1203 142 22901 2571 2572 3956 47 5310 5538 5660 6342 7957 9374	Homo sapiens (human)
DOID:5375	hair follicle neoplasm Aliases: Hair Matrix neoplasm Hair matrix tumour	MUTYH SDC1	4595 6382	Homo sapiens (human)
DOID:1932	Angelman syndrome Aliases: happy puppet syndrome puppetlike syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	PTGS2	5743	Homo sapiens (human)
DOID:401	multidrug-resistant tuberculosis	HACD1 NCAM1 PTGS2 RENBP SMUG1	23583 4684 5743 5973 9200	Homo sapiens (human)
DOID:2598	laryngeal benign neoplasm Aliases: laryngeal tumor larynx neoplasm neoplasm of larynx	ACACA ACE ACSS2 ADH1B ADH1C ADH5 ADH7 AKR1A1 ALDH2 ALG1 ANXA5 CAT CD14 CD44 CMAS CYP1A1 CYP1B1 CYP2E1 DCN GAPDH GPX1 HADH HK2 HPGDS HYAL1 INPP4B INPPL1 LGALS1 OGG1 OGT PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PTGS2 SHMT1 SLC2A3 SMUG1 SULT1E1 UGT1A1 UGT1A7 VCAN	10327 125 126 128 131 1462 1543 1545 1571 1634 1636 217 23583 23659 2597 27306 2876 2923 3033 308 3099 31 3373 3636 3956 4968 5290 5291 5293 5294 54577 54658 55902 55907 56052 5743 6470 6515 6783 847 8473 8821 929 960	Homo sapiens (human)

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