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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 **5376 - 5400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:14768	Saethre-Chotzen syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:8943	lattice corneal dystrophy Aliases: familial amyloid neuropathy, Finnish type	GCDH	2639	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	CAT CYP19A1 IGF2R TP53	1588 3482 7157 847	Homo sapiens (human)
DOID:10440	mycotic corneal ulcer	CD209 CLEC4E CLEC7A ICAM1	26253 30835 3383 64581	Homo sapiens (human)
DOID:0110484	autosomal recessive nonsyndromic deafness 26 Aliases: DFNB26 autosomal recessive deafness 26	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:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	ACE ACHE CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP SARM1 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 2131 2132 23098 23583 26035 2675 2731 43 4680 54732 5621 5660 6484 8398 84750 8803	Homo sapiens (human)
DOID:7457	enterobiasis Aliases: Oxyuris vermicularis infection Threadworm infection	ABO CD38 CD44 COLEC11 FCER2 FCN2 HPGDS LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 27306 28 284348 3958 4153 5091 78989 952 960	Homo sapiens (human)
DOID:13945	CADASIL Aliases: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia	CTSA DCN	1634 5476	Homo sapiens (human)
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BCKDHB CD1D CERK DCN IGF2R KLRK1 LGALS1 LGALS3 MLYCD PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTGS2 RENBP SDC1 SELE SEMA7A SIGLEC1 SIRT6 SPHK2 VCAM1	1634 22914 23417 3482 3956 3958 51548 5286 5290 5291 5293 5294 5335 56848 5743 594 5973 6382 6401 64781 6614 7412 8482 912	Homo sapiens (human)
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)
DOID:0111420	familial GPIHBP1 deficiency Aliases: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID	GPIHBP1	338328	Homo sapiens (human)
DOID:0060599	Nance-Horan syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:10211	cholelithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:2089	obsolete constipation	ACE ACHE ADH1C AKR1A1 ALDOB ALPP ATRNL1 B3GAT1 CHAT CHST14 COG2 COMT CTNS DDOST EXT2 GAD1 GBA1 HPSE2 MANBA MDH2 MGAM MLYCD OCRL PAFAH1B1 PCCA PCCB PIK3CA PRNP PTEN SDC1 SDHA SDHB SDHC SLC35A2 UGT1A9	10327 1103 113189 126 1312 1497 1636 1650 2132 22796 229 23417 250 2571 26033 2629 27087 4126 4191 43 4952 5048 5095 5096 5290 54600 5621 5728 60495 6382 6389 6390 6391 7355 8972	Homo sapiens (human)
DOID:0060173	Timothy syndrome	HEXD OGA PRKAA2 SCD	10724 284004 5563 6319	Homo sapiens (human)
DOID:0060736	epidermolysis bullosa simplex Ogna type Aliases: EBS-O EBS-Og EBSOG	PLOD3	8985	Homo sapiens (human)
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MAN2B1 MMUT	4125 4594	Homo sapiens (human)
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)
DOID:3948	adrenocortical carcinoma Aliases: Adrenal cortical carcinoma carcinoma of the Adrenal cortex	ACACA ACAT1 ACOT7 AKR1B1 AKR1C3 CD22 CHGA CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP2B6 CYP4F2 DHCR24 ENO2 ENPP3 FH GLB1 HSD17B4 IGF2R MDH2 MUTYH NAGLU PIK3CA PLCB3 SCP2 SDHB SDHD SIRT6 SOAT1 SPHK1 TM7SF2	1113 11332 1555 1583 1584 1585 1586 1588 1718 2026 2271 231 2720 31 3295 3482 38 4191 4595 4669 51548 5169 5290 5331 6342 6390 6392 6646 7108 8529 8644 8877 933 9469	Homo sapiens (human)

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