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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 **4501 - 4525** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110464	autosomal recessive nonsyndromic deafness 103 Aliases: DFNB103 autosomal recessive deafness 103	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:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	HPRT1	3251	Homo sapiens (human)
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	ACACA ACE AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALOX5 ALPI ALPP ARSD CAT CD44 CD48 CD55 CD74 CHST3 COMT CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP4F3 DCN DHRS11 ENO1 ENPP1 ENPP3 EXTL3 FCGR3B GALNT3 GALNT6 GALT GBA1 GPNMB GPX3 HAS1 HK1 HPGDS HPRT1 HPSE HS3ST3B1 HSD11B2 HSD17B1 HSD17B2 HSD17B3 HSD17B7 HSD3B1 HSD3B2 HYAL2 ICAM1 IL18R1 IL1R1 IL1RAP IMPA2 KLRC1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LIPG MRC1 NCAM1 OGG1 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB1 PLCB4 PPT1 PSMD10 PTEN PTGES PTGS2 SDC4 SELE SELL SIGLEC7 SLC2A3 SLC2A4 SLC33A1 SMPDL3A SRD5A1 SRD5A2 STS SULF2 SULT1E1 TECR UST VCAM1 VCAN	10090 10457 10855 10924 11226 120227 1312 142 1462 1543 1544 1545 1555 1557 1576 1583 1586 1588 1589 1604 1634 1636 1645 1646 2023 2137 2215 22914 231 23236 240 248 250 2591 2592 2629 27036 27306 2878 2923 3036 3098 31 3251 3283 3284 3291 3292 3293 3294 3383 3554 3556 3613 3821 3956 3958 3960 3965 3990 4051 412 414 4360 4684 4968 51478 5167 5169 5290 5291 5293 5294 5320 5332 5538 55959 5716 5728 5743 6385 6401 6402 6515 6517 6715 6716 6783 7412 79154 847 8644 8692 8809 9197 9388 9469 9524 9536 960 962 972 9953	Homo sapiens (human)
DOID:5119	ovarian cyst	CYP17A1 CYP19A1 NTHL1 PIK3CA PTEN PTGS1 PTGS2	1586 1588 4913 5290 5728 5742 5743	Homo sapiens (human)
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	ALPL GGT1	249 2678	Homo sapiens (human)
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT DLD GALNS UMOD	1738 2588 353 7369	Homo sapiens (human)
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	ACACA ACHE ALDH2 B4GAT1 CD38 CHKA CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1119 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H Aliases: LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB 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 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:9946	steroid-induced glaucoma Aliases: Corticosteroid-induced glaucoma	PTGS2	5743	Homo sapiens (human)
DOID:9266	cystinuria	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:11155	hypohidrosis Aliases: Oligohidrosis	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)
DOID:0060229	Baraitser-Winter syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0060640	ethylmalonic encephalopathy	ALDH3A2 ANXA5	224 308	Homo sapiens (human)
DOID:0080191	PTEN hamartoma tumor syndrome	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:8725	vascular dementia Aliases: Multi Infarct Dementia multifocal dementia	ACE ACHE ARSA CHAT CHI3L1 CHIT1 CRLS1 G6PD GFRA1 GPI GPX1 GSK3B ICAM1 KL L2HGDH MASP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PRNP PTGS2 RGN SUCLA2 TNF TP53	1103 1116 1118 1636 2539 2674 2821 2876 2932 3383 410 43 5290 5291 5293 5294 5320 54675 5621 5648 5743 7124 7157 79944 8803 9104 9365	Homo sapiens (human)
DOID:7095	childhood epithelioid sarcoma Aliases: pediatric epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)
DOID:452	pleomorphic adenoma Aliases: mixed tumor of the Salivary gland	ALDH3A1 B3GAT1 CD44 FASN HPGDS HPRT1 NANS PIK3CA PTEN PTGS2 STS TM7SF2 XYLT1 XYLT2	218 2194 27087 27306 3251 412 5290 54187 5728 5743 64131 64132 7108 960	Homo sapiens (human)
DOID:0110768	hereditary spastic paraplegia 15 Aliases: Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110351	osteogenesis imperfecta type 11 Aliases: OI11 osteogenesis imperfecta type XI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:820	myocarditis Aliases: Myocardial inflammation	ACE ARSB CA4 CYP11B1 CYP11B2 DCN FCN2 FKTN FUT4 GPX1 ICAM1 IDS ISYNA1 KLRB1 KLRK1 LGALS3 LGALS9 NCAM1 PTGS2 SLC17A5 SLC2A10 SMUG1	1584 1585 1634 1636 2218 2220 22914 23583 2526 26503 2876 3383 3423 3820 3958 3965 411 4684 51477 5743 762 81031	Homo sapiens (human)
DOID:0060671	cerebral cavernous malformation 3	SMUG1	23583	Homo sapiens (human)
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ABO ACE AGXT ALG1 APRT CD14 CD248 CLEC7A EXT1 GRHPR HPSE2 ICAM1 MBL2 PCYT1B PNP PTGS1 PTGS2 SFTPA1 SFTPA2 SFTPD SLC3A1 SRD5A2 UMOD	1636 189 2131 28 3383 353 4153 4860 56052 57124 5742 5743 60495 6441 64581 6519 653509 6716 729238 7369 929 9380 9468	Homo sapiens (human)
DOID:0110846	xeroderma pigmentosum group E Aliases: XP group E XP5 XPE xeroderma pigmentosum V	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:1442	obsolete Alpers syndrome	PRNP	5621	Homo sapiens (human)
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3 Aliases: AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)

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