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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 **601 - 625** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:12639	pyloric stenosis	ACSL4 AGPAT2 ALG13 FIG4 IL1RAPL1 MTM1 SLC2A10 SLC35A2 SMC3 TMTC3	10555 11141 160418 2182 4534 7355 79868 81031 9126 9896	Homo sapiens (human)
DOID:0060690	autosomal dominant auditory neuropathy 1 Aliases: AUNA1 NSDAN nonsyndromic dominant auditory neuropathy	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:11720	distal myopathy Aliases: distal muscular dystrophy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB COMT CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 1312 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:5214	demyelinating polyneuropathy Aliases: peripheral demyelinating neuropathy	ACO2 ARSA FIG4 IDH1 IDH2 MAG MTMR2 PRNP PTGS2	3417 3418 4099 410 50 5621 5743 8898 9896	Homo sapiens (human)
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:11755	choledocholithiasis	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:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	APRT CYP19A1 SDC1	1588 353 6382	Homo sapiens (human)
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)
DOID:5505	papillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)
DOID:0070227	intrahepatic cholestasis of pregnancy Aliases: ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy	ACE CHI3L1 HPRT1 ISYNA1 KLB PLA2G1B PLA2G2A PLA2G6 PNPLA3 PTGES3 SLC17A5 VCAM1	10728 1116 152831 1636 26503 3251 51477 5319 5320 7412 80339 8398	Homo sapiens (human)
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	ABO ACE ACLY ACSS2 ALOX5 APRT ARSA ARSI CAT CD14 CD1D CD22 CD44 CNTN3 CTSA CYP19A1 CYP2J2 DCN EFNA5 FCGR3B FCN3 HPSE ICAM1 ICAM2 IL18R1 IL1R1 LGALS3 LTA4H LTC4S MBD4 MCAT PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G15 PLA2G7 PRKAA2 PTEN PTGES PTGS2 RECK RENBP SELL SLC33A1 SMUG1 SRD5A1 TM7SF2 VCAM1 VCAN XYLT1	10855 142 1462 1573 1588 1634 1636 1946 2215 23583 23659 240 27349 28 3383 3384 340075 353 3554 3958 4048 4056 410 47 5067 5130 5290 5291 5293 5294 5476 5563 55902 5728 5743 5973 6402 64131 6715 7108 7412 7941 8399 8434 847 8547 8809 8930 912 9197 929 933 9536 960	Homo sapiens (human)
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	ACAN ACE ALDOA CD14 CD74 CYP17A1 ENO1 ENPP1 FCGR3B KL KLRB1 KLRK1 MBL2 MICA PTGS2 SFTPA2 SMUG1 SOAT1 TNF VCAN	100507436 1462 1586 1636 176 2023 2215 226 22914 23583 3820 4153 5167 5743 6646 7124 729238 929 9365 972	Homo sapiens (human)
DOID:0050690	brachyolmia Aliases: brachyrachia	PAPSS2	9060	Homo sapiens (human)
DOID:0050954	spinocerebellar ataxia type 1	CAT ELOVL5 GLO1 HSD17B6	2739 60481 847 8630	Homo sapiens (human)
DOID:2994	germ cell cancer Aliases: malignant tumor of the germ cell	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 CALR CD44 CLEC10A CYP19A1 DHDH GFRA1 GOLPH3 GPC3 HPGDS IDH1 IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TDG TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2674 2719 27294 27306 3417 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 6996 811 8277 8644 9388 960	Homo sapiens (human)
DOID:3151	skin squamous cell carcinoma Aliases: Epidermoid skin carcinoma	AKR1C3 APRT CD44 CD55 CDH13 CYP21A2 FUT1 GLB1 HPGDS HSD11B2 INPP5A MMUT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SDC1 SDC2 SIRT6 SMUG1 SOAT1 SPHK2 ST3GAL1 STT3A	1012 1589 1604 23583 2523 2720 27306 3291 353 3632 3703 4594 4684 51548 5290 5291 5293 5294 56848 5728 5730 5743 6382 6383 6482 6646 8644 960	Homo sapiens (human)
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)
DOID:0110516	autosomal recessive nonsyndromic deafness 65 Aliases: DFNB65 autosomal recessive deafness 65	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:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACADL	33	Homo sapiens (human)
DOID:0070077	schizophrenia 1 Aliases: SCZD1	SULT1E1	6783	Homo sapiens (human)
DOID:0110667	congenital myasthenic syndrome 5 Aliases: CMS Ic CMS5 EAD Engel congenital myasthenic syndrome congenital myasthenic syndrome Engel type congenital myasthenic syndrome type Ic end plate acetylcholinesterase deficiency	ACHE	43	Homo sapiens (human)
DOID:627	severe combined immunodeficiency Aliases: SCID combined T and B cell inborn immunodeficiency	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:3275	thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	PCYT1A	5130	Homo sapiens (human)
DOID:496	spindle cell hemangioma Aliases: SCH	ANXA5 IDH1 IDH2 PRKAA2 PTGS1 PTGS2	308 3417 3418 5563 5742 5743	Homo sapiens (human)

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