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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 **2176 - 2200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	LPL	4023	Homo sapiens (human)
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	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:530	eyelid disease	ALOX5 CEACAM5 CYP27A1 EPHX2 G6PC1 GPC1 PTGS1 SLC37A4	1048 1593 2053 240 2538 2542 2817 5742	Homo sapiens (human)
DOID:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	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:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	CD14 CD38 CYP19A1 CYP21A2 CYP27B1 DAG1 FUT2 GAD1 GAD2 GLUL GPX3 ICAM1 IL18R1 IL18RAP IL1RL1 LGALS3 MBL2 NCAM1 NT5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PTEN PTGDS PTGS2 RENBP SOAT1	1588 1589 1594 1605 2524 2571 2572 2752 2878 3383 3958 4153 4684 4907 5130 5290 5291 5293 5294 5336 5728 5730 5743 5973 6646 8807 8809 9173 929 952	Homo sapiens (human)
DOID:13778	chancroid Aliases: Ulcus molle, skin	ACAT1 ACHE FUT4 ICAM1 LGALS3 SELE	2526 3383 38 3958 43 6401	Homo sapiens (human)
DOID:0110499	autosomal recessive nonsyndromic deafness 40 Aliases: DFNB40 autosomal recessive deafness 40	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:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:0110270	cataract 17 multiple types Aliases: CTRCT17	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:13636	Fanconi anemia Aliases: Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia	ADH5 ALDH2 ANXA7 CAT CD33 CD38 CD44 CD48 CTNS CYP11A1 CYP2B6 ELOVL6 ENO1 FUT1 GCK HPGDS HPRT1 ICAM1 LPL ME1 MRC1 NCAM1 NEIL1 NEIL3 NTHL1 OCRL PARP1 PFKFB3 PRKAA2 PTEN SOAT1 TIGAR TNF VCAM1	128 142 1497 1555 1583 2023 217 2523 2645 27306 310 3251 3383 4023 4199 4360 4684 4913 4952 5209 55247 5563 57103 5728 6646 7124 7412 79071 79661 847 945 952 960 962	Homo sapiens (human)
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	CD14 CNTN3 CYP11B1 GAPDH HSD11B1 HSD11B2 SMUG1	1584 23583 2597 3290 3291 5067 929	Homo sapiens (human)
DOID:0060278	pontocerebellar hypoplasia type 9	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0110753	type 1 diabetes mellitus 15 Aliases: IDDM15 Insulin-Dependent Diabetes Mellitus 15	ABO ACAN ACE ACOT7 ACSL1 ADH5 AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEPT1 CHAT CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FASN FCER2 FCGR3B FCN2 FKRP FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TM7SF2 UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 10724 10747 10855 1103 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3482 353 3554 3635 3636 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7108 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:6741	bilateral breast cancer Aliases: Bilateral breast carcinoma	ABO CRLS1 CYP19A1 GALNT12 PTEN SDHB	1588 28 54675 5728 6390 79695	Homo sapiens (human)
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	Homo sapiens (human)
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	ACHE AKR1B1 CHST3 CYP2B6 CYP2C19 CYP2C9 HSPG2 MICA SGSH	100507436 1555 1557 1559 231 3339 43 6448 9469	Homo sapiens (human)
DOID:3261	hyper IgE recurrent infection syndrome 1 Aliases: Job syndrome Job's syndrome hyperimmunoglobulin E syndrome	ICAM1 PGM3 SOAT1	3383 5238 6646	Homo sapiens (human)
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	CYP19A1 HPSE2 SIRT2	1588 22933 60495	Homo sapiens (human)
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	ACACA ACE ALG13 CD44 CMAS CYP11B2 G6PC1 HPSE IL1R1 LIPC LPL MLYCD NAGLU PKD1 PKD2 PLA2G1B PLA2R1 PLB1 PLCE1 PLCG1 SELP SGPL1 SLC37A4 SMPDL3B VCAN	10855 1462 151056 1585 1636 22925 23417 2538 2542 27293 31 3554 3990 4023 4669 51196 5310 5311 5319 5335 55907 6403 79868 8879 960	Homo sapiens (human)
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI CA4 CANX CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 57104 5728 60506 6120 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:8670	eating disorder	ACOT7 ARSD COMT DBT GPCPD1 SIGLEC7	11332 1312 1629 27036 414 56261	Homo sapiens (human)
DOID:4254	osteosclerosis	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)

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