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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 **851 - 875** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	ACAN CHST3 GLB1	176 2720 9469	Homo sapiens (human)
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	ACAN CNTN2 HPRT1 KLRC1 KLRD1 KLRK1 SELL	176 22914 3251 3821 3824 6402 6900	Homo sapiens (human)
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:84	osteochondritis dissecans Aliases: OCD	ACAN COL9A2 COMT TPI1	1298 1312 176 7167	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:10932	obsessive-compulsive personality disorder Aliases: OCPD	ACAN COMT	1312 176	Homo sapiens (human)
DOID:0080041	hypochondroplasia	ACAN CYP2C19 DCN GALNT2	1557 1634 176 2590	Homo sapiens (human)
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)
DOID:62	aortic valve disease	ACAN ENPP1 KL NT5E PLA2G7 PLPP3 STS	176 412 4907 5167 7941 8613 9365	Homo sapiens (human)
DOID:2649	chondroblastoma Aliases: Chondroblastoma of bone	ACAN EXT1 IDH2 PTGS2	176 2131 3418 5743	Homo sapiens (human)
DOID:10328	siderosis Aliases: pulmonary siderosis	ACAN GAD1 HS3ST6 PTGS2	176 2571 5743 64711	Homo sapiens (human)
DOID:12522	bagassosis Aliases: sugar cane worker pneumonitis	ACAN HS3ST6 OVGP1 PTGS2	176 5016 5743 64711	Homo sapiens (human)
DOID:2557	chondromalacia	ACAN IL1R1	176 3554	Homo sapiens (human)
DOID:6590	spondylitis	ACAN MICA SMUG1 VCAN	100507436 1462 176 23583	Homo sapiens (human)
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	ACAN SLC25A12	176 8604	Homo sapiens (human)
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	ACAN SMUG1	176 23583	Homo sapiens (human)
DOID:0080480	peroxisome biogenesis disorder 5A Aliases: peroxisome biogenesis disorder 5A (Zellweger)	ACAN	176	Homo sapiens (human)
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)
DOID:12328	marasmus Aliases: Nutritional atrophy Nutritional marasmus	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP19A1 CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA LIPC MPI OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PMM2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1588 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3990 3992 4351 47 5091 5106 5290 5291 5293 5294 5338 5373 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:11801	protein-energy malnutrition	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP19A1 CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA LIPC OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1588 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3990 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:13579	kwashiorkor Aliases: Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 PTGS2 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5743 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:374	nutrition disease Aliases: Nutritional disorder	ACAT1 ACE ACLY ACOT7 ACSBG1 AKR1A1 ALDH2 ALDOB AMACR AMY1A AMY1B AMY1C BST2 CALR CAT CD14 CD55 CEL CYP2C9 CYP2E1 CYP7A1 CYP7B1 DGAT1 FADS1 FADS2 FCGR3B FH G6PC1 GAD2 GALT GLB1 GPX3 HJV HPGDS HPSE2 HSD3B1 ICAM1 KL LCT LDHA LGALS3 LIPA OGA PC PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PRPS1 REG1B SDHB SELP SI SLC2A4 SLC37A4 SLC39A8 SLC5A1 SMC3 SMPD1 SMUG1 SORD SPHK1 TPI1 TYMP VCAM1	10327 1056 10724 11332 148738 1559 1571 1581 1604 1636 1890 217 2215 2271 229 23205 23583 23600 2538 2542 2572 2592 2720 27306 276 277 278 2878 3283 3383 38 3938 3939 3958 3988 3992 47 5091 5106 5290 5291 5293 5294 5338 5631 5968 60495 6390 6403 64116 6476 6517 6523 6609 6652 684 7167 7412 811 847 8694 8877 9126 929 9365 9415 9420	Homo sapiens (human)
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT BAD CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 TLR4 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 572 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7099 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)
DOID:10871	age related macular degeneration Aliases: Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration	ACAT1 ACE ACO1 AKR1A1 ALDH3A2 ALDH5A1 ATP6AP2 B3GLCT CALR CAT CD55 CHI3L1 CHST6 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP2C19 CYP2R1 CYP46A1 ELOVL4 FADS1 FADS2 FCGR3B FCN2 FMOD FUT6 G6PD GALNS GPX3 HPGDS HS3ST4 HSD11B1 HSPG2 ICAM1 LGALS1 LIPC LPL MAN2B1 MASP1 MBL2 MUTYH NCAM1 OGG1 PARP12 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G12A PLCG2 PNPLA2 PPARGC1A PPT1 PTEN RENBP RPE SCD5 SELE SELL SELP SMUG1 SUCLA2 UGT2B17 UNG XYLT1 XYLT2	10159 10327 10858 10891 1116 120227 142 145173 1544 1557 1589 1591 1593 1604 1636 2215 2220 224 2331 23583 2528 2539 2588 27306 2878 3290 3339 3383 38 3956 3990 3992 4023 4125 4153 4166 4595 4684 48 4968 5290 5291 5293 5294 5336 5538 5648 57104 5728 5973 6120 6401 6402 6403 64131 64132 64761 6785 7367 7374 7915 79966 811 81579 847 8803 9415 9951	Homo sapiens (human)

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