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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 **3451 - 3475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	ABO AGL AGPAT2 ALOX5 ANXA5 APRT ARSD ATP6AP2 CBR1 CD33 CD38 CD44 CEACAM7 CHST3 CYP2B6 EBP FH FUT1 FUT4 GFRA1 GLB1 HK3 HPRT1 HSPG2 ICAM1 IDH1 IDH2 IL18R1 KLRB1 KLRD1 LGALS12 LGALS1 LGALS3 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGDS PTGS1 PTGS2 SDHD SMPD1 SOAT1 SRGN TNFRSF10C	10159 10555 10682 1087 1555 178 2271 240 2523 2526 2674 2720 28 308 3101 3251 3339 3383 3417 3418 353 3820 3824 3956 3958 414 4684 5290 5291 5293 5294 5552 57104 5728 5730 5742 5743 6392 6609 6646 85329 873 8794 8809 945 9469 952 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	ACAN CD38 CHST3 GLB1 HSPG2	176 2720 3339 9469 952	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8488	polyhydramnios	AGRN ALG12 ALG8 ALPL B3GLCT CHAT CNTN1 COMT DHCR7 DPM2 EBP FIG4 FUT8 GBA1 GBE1 GPC3 HACD1 HSD17B4 HSPG2 INPPL1 MTM1 MTMR14 PAFAH1B1 PIGN PIGY PMM2 SLC26A2 SLC35D1	10682 1103 1272 1312 145173 1717 1836 23169 23556 249 2530 2629 2632 2719 3295 3339 3636 375790 4534 5048 5373 64419 79053 79087 84992 8818 9200 9896	Homo sapiens (human)	DisGeNET
DOID:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110563	autosomal dominant nonsyndromic deafness 36 Aliases: DFNA36 autosomal dominant deafness 36	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)	DisGeNET
DOID:13934	facial paralysis Aliases: Facial Palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12123	postinflammatory pulmonary fibrosis Aliases: Post-inflammatory pulmonary fibrosis	ACE ACO2 ANXA5 APRT ASAH1 ATP6AP2 B3GAT1 B3GAT3 CAT CD44 CEL CHAT CHI3L1 CHIT1 CHST15 CYP27B1 DCN ELOVL6 FASN FCGR3B FOLR2 FUT8 GLB1 HAS2 HPGDS ICAM1 IL1RL1 INPP5D KL LCLAT1 LDHA LGALS1 LGALS3 MPG MRC1 NEU1 NEU3 NT5E OGG1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLAUR PRKAA2 PTEN PTGS2 SDC1 SDC2 SDC4 SELE SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SGPL1 SIRT6 SLC27A5 SMUG1 SOAT1 SPHK2 SULF1 SULF2 TM7SF2 VCAM1	10159 1056 10825 10998 1103 1116 1118 1594 1634 1636 2194 2215 23213 2350 23556 23583 2530 253558 26229 27087 2720 27306 3037 308 3383 353 3635 3939 3956 3958 427 4350 4360 4758 4907 4968 50 51363 51548 5290 5291 5293 5294 5321 5329 5563 55959 56848 5728 5743 6382 6383 6385 6401 6440 6441 653509 6646 7108 729238 7412 79071 83666 847 8482 8879 9173 9365 960	Homo sapiens (human)	DisGeNET
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	ABAT ACE AGRN ALPP ARSA ATP6V1A ATRNL1 CALR CHAT COG7 COMT CYP2C19 DDOST DEGS1 ECI1 EXT2 FCSK FUT3 GNE HPGDS IL18R1 IL1R1 MCEE NT5E NTM NTNG1 OCRL PGM3 PIGA PIGN PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLB1 PLCE1 PRKCSH PTGES PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPC SLC2A10 SLC35A2 SMC3 SYNJ1 TLR2	10020 1103 1312 151056 1557 1632 1636 1650 18 197258 2132 22854 23556 250 2525 26033 27306 3554 375790 410 4907 4952 50863 51196 523 5238 5277 5290 5291 5293 5294 5320 5589 5742 5743 6440 653509 7097 729238 7355 81031 811 84693 8560 8809 8867 9126 91949 9536	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:13137	Werdnig-Hoffmann disease Aliases: HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4377	egg allergy Aliases: Allergy to eggs	LYZ MPI PMM2 PTGDS	4069 4351 5373 5730	Homo sapiens (human)	DisGeNET
DOID:0111146	acquired von Willebrand syndrome Aliases: AVWS	CALR	811	Homo sapiens (human)	DisGeNET
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B LRP5	144245 4041 84920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050632	oculocutaneous albinism	CALR CANX G6PC3 IDS PIK3CA PTEN	3423 5290 5728 811 821 92579	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110264	cataract 33 Aliases: CTRCT33	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)	DisGeNET
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)	DisGeNET
DOID:0050256	angiostrongyliasis	LGALS2	3957	Homo sapiens (human)	DisGeNET
DOID:0080356	IgG4-related disease	ENO1 PLB1 SDC1 SMUG1	151056 2023 23583 6382	Homo sapiens (human)	DisGeNET
DOID:0080521	lung non-squamous non-small cell carcinoma Aliases: non- squamous NSCLC	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10192	pleomorphic lipoma	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050847	sleep apnea	ACE ADIPOQ CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LEPR LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3953 3958 54187 55556 5728 5743 79158 9370	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8869	neuromyelitis optica Aliases: Devic's disease Devic's syndrome	ACE CD55 CH25H CYP27B1 CYP7A1 FUT4 GPC5 PIK3CA PIK3CB PIK3CD PIK3CG RGMA SDC1	1581 1594 1604 1636 2262 2526 5290 5291 5293 5294 56963 6382 9023	Homo sapiens (human)	DisGeNET
DOID:1352	paranasal sinus disease Aliases: disorder of nasal sinus	ACHE	43	Homo sapiens (human)	DisGeNET

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