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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 **1751 - 1775** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	G6PD	2539	Homo sapiens (human)
DOID:0110194	Charcot-Marie-Tooth disease type 4B3 Aliases: CMT4B3	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:0110562	autosomal dominant nonsyndromic deafness 33 Aliases: DFNA33 autosomal dominant deafness 33	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:12028	Conn's syndrome Aliases: Conn syndrome primary aldosteronism	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:9699	ophthalmia neonatorum Aliases: Gonococcal conjunctivitis Gonococcal ophthalmia neonatorum Neonatal conjunctivitis	IL18R1	8809	Homo sapiens (human)
DOID:5709	mixed-type liposarcoma	EBP PIK3CA PIK3CB PIK3CD PIK3CG	10682 5290 5291 5293 5294	Homo sapiens (human)
DOID:0110730	neuronal ceroid lipofuscinosis 6B Aliases: CLN4A autosomal recessive neuronal ceroid lipofuscinosis 4A neuronal ceroid lipofuscinosis 4A	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	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:3137	obsolete multiple symmetrical lipomatosis	CEL PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN	1056 10908 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	AKR1B10 ENO2 PLA2G1B PLA2G6 PLB1	151056 2026 5319 57016 8398	Homo sapiens (human)
DOID:1591	renovascular hypertension	ACE FIG4 G6PD PKD1 PTGS1 PTGS2 SLC33A1 TM7SF2	1636 2539 5310 5742 5743 7108 9197 9896	Homo sapiens (human)
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	CYP11B1 CYP11B2 CYP17A1 HSD11B2 PTGS2	1584 1585 1586 3291 5743	Homo sapiens (human)
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	ABO ACE CHIT1 COL9A2 FDFT1 GLA GLO1 GPX1 LGALS3 LPIN2 LYZ MICA PIK3CG PRNP STS TNF	100507436 1118 1298 1636 2222 2717 2739 28 2876 3958 4069 412 5294 5621 7124 9663	Homo sapiens (human)
DOID:0050590	severe congenital neutropenia	ABO ACE AGA B3GAT1 CD177 CD33 CEL CHPT1 COG4 CYP1B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP39A1 CYP3A5 DHDDS FCGR3B FH G6PC1 G6PC3 HMMR IDUA LPIN2 MBL2 MMUT NAMPT NCAM1 PARP1 PARP9 PCCA PCCB PGM3 PIK3CA PIK3CB PIK3CD PIK3CG SELP SLC17A5 SLC27A5 SLC35A1 SLC35A2 SLC37A4 TMTC3 TNFRSF10C UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10135 10559 1056 10998 142 1545 1555 1557 1558 1559 1577 160418 1636 175 2215 2271 2538 2542 25839 26503 27087 28 3161 3425 4153 4594 4684 5095 5096 51302 5238 5290 5291 5293 5294 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 56994 57126 6403 7355 7372 79947 83666 8794 92579 945 9663	Homo sapiens (human)
DOID:0110269	cataract 3 multiple types Aliases: CTRCT3 cataract 3 multiple types with or without microcornea	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:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ALOX5 ARSD CAT CD14 CD44 CD55 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DGKA DHCR24 DPM2 EPHX2 FCN2 FUT3 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LEP LGALS3 LPCAT1 LTC4S MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTEN PTGS1 PTGS2 RECK RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TNF TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1604 1606 1634 1636 1718 2053 2220 231 23583 240 2525 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3952 3958 4056 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5728 5742 5743 5973 6440 6441 653509 6609 7108 7124 7167 729238 7368 7941 79888 81031 83666 8398 8399 8434 847 8818 929 9365 9468 960	Homo sapiens (human)
DOID:5826	breast lymphoma Aliases: Lymphoma of the breast lymphoma of breast malignant lymphoma of breast	HPSE SMUG1	10855 23583	Homo sapiens (human)
DOID:859	holocarboxylase synthetase deficiency Aliases: Biotin-(propionyl-CoA-carboxylase) ligase deficiency Multiple carboxylase deficiency - neonatal onset	PC	5091	Homo sapiens (human)
DOID:2450	central retinal vein occlusion	HPSE ICAM1 NDUFAB1 PLA2G1B PLA2G2A PLA2G6 PNP	10855 3383 4706 4860 5319 5320 8398	Homo sapiens (human)
DOID:0050747	obsolete lymphoplasmacytic lymphoma	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:350	mastocytosis Aliases: mast cell hyperplasia	ACLY CALR CD33 CD38 CD44 CD72 CEL DHCR24 DLD ENOSF1 ENPP3 ETNK1 FCER2 FH GPX1 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2E PTGS2 SMPD1	1056 1718 1738 2208 2271 27349 2876 30814 3339 3383 3418 47 5169 5290 5291 5293 5294 55500 55556 5743 6609 811 945 952 960 9653 971	Homo sapiens (human)
DOID:0111012	cone-rod dystrophy 7 Aliases: CORD7	ELOVL4	6785	Homo sapiens (human)
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ABO ACOT8 AKR1B1 CYP1B1 ELOVL5 GALC GNS HK2 PTEN TLR4 TMTC2 TNF TP53	10005 1545 160335 231 2581 2799 28 3099 5728 60481 7099 7124 7157	Homo sapiens (human)

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