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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 **2901 - 2925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0060282	persistent hyperplastic primary vitreous	CRPPA	729920	Homo sapiens (human)
DOID:5419	schizophrenia Aliases: schizophrenia-1	Akt1 B3gat2 Chi3l1 Chst3 Comt Gsk3b Htr2a Man2a2 Ppara Tnf	11651 12654 12846 140481 15558 19013 21926 280645 53374 56637	Mus musculus (house mouse)
DOID:0111414	trichohepatoenteric syndrome Aliases: SD/THE Syndromic diarrhea/Tricho-hepato-enteric syndrome THES Tricho-hepato-enteric syndrome phenotypic diarrhea syndromic diarrhea	ACE AGPAT2 B3GLCT B4GALT7 BCKDHA CALR CBR1 CHGA CHST3 CNTN3 CNTN4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DLD FH GALT GBA2 HPSE2 HSD11B2 IDS LPIN2 LPL MAG MRC1 MUTYH NDUFAB1 OCRL PAFAH1B1 PIGA PIK3CA PRNP PTEN PTGS2 SDHD SLC33A1 SLC35A2 SMC3 ST3GAL5 STS SUCLA2 TECTA TKT TNKS UGT1A1 XYLT2	10555 1113 11285 145173 152330 1555 1583 1584 1585 1586 1588 1589 1636 1738 2271 2592 3291 3423 4023 4099 412 4360 4595 4706 4952 5048 5067 5277 5290 54658 5621 5728 5743 57704 593 60495 6392 64132 7007 7086 7355 811 8658 873 8803 8869 9126 9197 9469 9663	Homo sapiens (human)
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	Pik3r1 Tp53	24842 25513	Rattus norvegicus (Norway rat)
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	PGK1 SLC35G1	159371 5230	Homo sapiens (human)
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	ABO ACAN ACE ACHE ACSM3 ACSS2 ADH1B ADH1C AKR1C1 AKR1C4 AKR1D1 ALDH1A3 ALDH2 ALG9 ALOX5 ALPP AMACR ANXA5 APRT ARSD ARSH ATRNL1 B3GAT3 CANX CAT CBR1 CD109 CD44 CEACAM5 CEACAM7 CFC1 CH25H CHAT CHST14 CLEC1B CYP17A1 CYP1A2 CYP1B1 CYP2B6 DAG1 DCN DGKK DHCR24 DHCR7 DOLK EBP ENOSF1 EXT2 FBP1 FCGR3B FCN2 FIG4 FUT2 G6PC3 GAL3ST1 GAS1 GCK GLDC GLUL GPC3 GPC5 HEXD HPRT1 ICAM1 IDH1 IDS IL1RAPL1 INPP4A INPP5D KLRC1 LFNG LIPA MAG MASP1 MLYCD MRC1 NAAA NDUFAB1 NEU1 NTHL1 OGA OGG1 PAFAH1B1 PAPSS2 PDHA2 PGAP3 PGD PGM1 PIGA PIGN PIGO PIGP PIGT PIGV PIGY PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G15 PLB1 PLCD1 PMM2 POMT1 POMT2 PRKAA2 PRKCSH PRNP PSAP PTEN PTGDS PTGS1 PTGS2 SC5D SCD SDC2 SDHB SDHC SDHD SGPL1 SHMT1 SIGLEC1 SIGLEC7 SIRT6 SLC33A1 SLC35A1 SLC35A3 SLC3A1 SMC3 SORD SRD5A3 SULT1E1 TECR TGDS TKT TMEM165 VCAN	1048 10559 10585 10682 10724 1087 1103 1109 11141 113189 125 126 135228 139189 1462 151056 1544 1545 1555 1586 1605 1634 1636 1645 1717 1718 176 2132 217 220 2203 2215 2220 2262 22845 23417 23443 23483 23556 23600 23659 240 250 2524 26033 2619 26229 2645 27036 27163 2719 2731 2752 28 284004 29954 308 3251 3383 3417 3423 347527 353 3631 3635 3821 3955 3988 4099 414 43 4360 4706 4758 4913 4968 5048 51227 51266 51548 51604 5161 5226 5236 5277 5289 5290 5291 5293 5294 5310 5311 5333 5373 55556 5563 55650 55858 5589 55902 55997 5621 5648 5660 5728 5730 5742 5743 6296 6309 6319 6383 6390 6391 6392 6470 6519 6614 6652 6718 6783 7086 79644 79796 821 847 84720 84992 873 8879 9023 9060 9126 9197 92579 93210 9514 9524 960 9896	Homo sapiens (human)
DOID:1824	status epilepticus Aliases: Grand mal status	Ogg1 sgg	31248 31806	Drosophila melanogaster (fruit fly)
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	Comt	12846	Mus musculus (house mouse)
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens (human)
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	st6gal1	100491268	Xenopus tropicalis (tropical clawed frog)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	Pofut1 Poglut1	288091 311551	Rattus norvegicus (Norway rat)
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	st6gal2	407846	Xenopus tropicalis (tropical clawed frog)
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC18B CLEC9A CNTN6 COLEC11 COMT CTSA CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP3A4 CYP4F3 CYP7B1 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2 IGF2R KLRB1 KLRC1 KLRD1 LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 NTM OGG1 PARP1 PIK3C2A PIK3CA PLA2G15 PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SLC35F4 SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1589 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27255 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 341880 347527 3481 3482 3820 3821 3824 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 497190 50863 5286 5290 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 9420 952	Homo sapiens (human)
DOID:5199	ureteral obstruction	ACE AKT1 ATP6AP2 CALR CAT CBR1 CD44 CYP2J2 GPNMB GRHPR HPGDS HSD11B2 ICAM1 IL1RL1 ISYNA1 KL LGALS3 LYZ PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PRKAA2 PTGDS PTGES PTGS2 SDC4 SOAT1 SPHK1 SPHK2 TNF VCAM1 VNN1	10159 10457 142 1573 1636 207 27306 3291 3383 3958 4069 51477 5290 5291 5293 5294 5321 5563 56848 5730 5743 6385 6646 7124 7412 811 847 873 8876 8877 9173 9365 9380 9536 960	Homo sapiens (human)
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	Pomt1	99011	Mus musculus (house mouse)
DOID:9538	multiple myeloma Aliases: myeloma	Chi3l1 Hk1 Tnf Tp53	24835 24842 25058 89824	Rattus norvegicus (Norway rat)
DOID:28	endocrine system disease	b4galt1.1 b4galt1.2	100145518 549418	Xenopus tropicalis (tropical clawed frog)
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	NAAA	27163	Homo sapiens (human)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	fkrp.L	108698503	Xenopus laevis (African clawed frog)
DOID:809	cocaine abuse	Htr2a Npy1r	15558 18166	Mus musculus (house mouse)
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	CEACAM5 CEACAM7 LDHA MRC1 NEU1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1 VTCN1	1048 1087 23583 3939 4360 4758 5290 5291 5293 5294 79679	Homo sapiens (human)
DOID:0080108	myoglobinuria	Pgam2	24959	Rattus norvegicus (Norway rat)
DOID:0110777	hereditary spastic paraplegia 26 Aliases: GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26	B4galnt1	64828	Rattus norvegicus (Norway rat)
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	Tp53	24842	Rattus norvegicus (Norway rat)

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