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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 **3901 - 3925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:14456	Brucella melitensis brucellosis	APRT CD14 MICA OXSM	100507436 353 54995 929	Homo sapiens (human)
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	ACAT2 ACSL6 AKR1C3 B4GALNT1 BCKDHB CD38 CDH13 CHI3L1 CLEC1B COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GAD1 GALT GPX3 HACD1 HJV HSD17B3 HSD17B4 HSD17B7 IGF2R KL LGALS1 LGALS3 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN SLC39A8 SMUG1 SRD5A2 STS SULT1E1 XPNPEP2	1012 1116 120227 1312 142 148738 1497 1555 1557 1581 1582 1588 23305 23583 2571 2583 2592 2878 3293 3295 3482 39 3956 3958 412 51266 51478 5226 5290 5291 5293 5294 5321 5373 5728 594 64116 6716 6783 7512 84649 8644 9200 92579 9365 952	Homo sapiens (human)
DOID:14796	Dubowitz syndrome Aliases: Dubowitz's syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0110541	autosomal dominant nonsyndromic deafness 1 Aliases: DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1	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:8738	leukoplakia of penis Aliases: Kraurosis of penis Penile Leukoplakia	INPP5E	56623	Homo sapiens (human)
DOID:8577	ulcerative colitis Aliases: Left-sided ulcerative colitis	ABO ACACA ACAT1 ACAT2 ACE ACHE ACO2 ACSBG1 ACSM3 ACSS2 ADIPOQ AGA AKR1B10 ALDH5A1 ALDOB ALOX12 ALOX5 ALPI ALPP AMACR AMT AMY1A AMY1B AMY1C ARSA ATP6V0A2 B3GAT1 BCKDHA CAT CBR1 CD14 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CERS1 CHGA CHI3L1 CHPT1 CHST15 CHST2 CLEC10A CLEC12A CLEC16A CLEC7A CTBS CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP3A4 CYP3A5 CYP4F2 CYP4F3 CYP7B1 DAG1 DHDDS DLD DPEP1 EFNA5 ENO1 ENPP2 EPHX2 FADS1 FADS2 FASN FCGR3B FCN2 FCN3 FH FUT2 FUT3 FUT4 G6PC3 GAL3ST1 GAL3ST2 GALM GALNT2 GAPDH GLB1 GP2 GPX1 GPX2 GUSB HMMR HPGDS HPSE HSD11B2 ICAM1 ICAM2 IDH1 IDUA IGF2 IL18R1 IL18RAP IL1R1 IL1RL1 IL1RL2 INPP5D IPMK ISYNA1 ITLN1 KLRK1 LACC1 LCT LGALS1 LGALS3 LGALS4 LGALS9 LPIN2 LPL LTA4H LYZ MACROD2 MASP2 MBL2 ME1 MGAT5 MGLL MICA MPG MTMR3 MUTYH NAAA NAMPT NEU1 NPL NT5E OGG1 PAFAH1B1 PARP1 PCYT1B PGAP3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG2 PTEN PTGDS PTGS1 PTGS2 REG1B RFT1 SDC1 SELE SELL SELP SFTPD SGPP2 SLC35A1 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK1 ST6GALNAC1 SUCLA2 SULT1E1 TBXAS1 TIGAR TKT TNF TNFRSF10C TUSC3 UGT1A1 UGT1A7 ULBP1 UST VCAM1 VCAN VNN1 YDJC	100507436 10090 1012 10135 10462 1048 10559 10715 10747 10855 1087 1113 1116 11343 130367 130589 140733 142 144811 1462 1486 150223 151056 1543 1555 1557 1559 1571 1573 1576 1577 1588 1589 1591 1594 160364 1604 1605 1636 1738 175 1800 1946 2023 2053 2194 2215 2220 2271 229 22914 23205 23274 23545 23583 23600 23659 239 240 248 250 2524 2525 2526 253430 2590 2597 27087 27163 2720 27306 275 276 277 278 28 2813 2876 2877 2990 30835 31 3161 3291 3383 3384 3417 3425 3481 3554 3635 38 39 3938 3956 3958 3960 3965 3992 4023 4048 4051 4069 410 4153 4199 4249 43 4350 4595 4680 4758 4907 4968 50 5048 51363 51477 5168 5226 5290 5291 5293 5294 5315 5319 5320 5321 5336 54577 54658 55600 55808 55902 56994 57016 57103 5728 5730 5742 5743 593 5968 6296 6382 6401 6402 6403 64090 64116 6441 64581 6609 6646 6783 6916 7086 7124 7412 7915 7941 7991 79947 80329 80896 8398 8399 847 8529 8547 873 8794 8803 8807 8808 8809 8876 8877 8897 9173 91869 92579 929 93210 9370 9415 9420 9435 945 9468 9514 952 960 9663 972	Homo sapiens (human)
DOID:0080482	peroxisome biogenesis disorder 7A Aliases: peroxisome biogenesis disorder 7A (Zellweger)	ACACA ACOT7 CAT GAA	11332 2548 31 847	Homo sapiens (human)
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	ABO ACO2 ACSS2 CAT CD44 CHGA DHCR24 ENPP1 G6PC1 G6PC2 GAD1 GAD2 GCK GPD2 HK1 INPPL1 INS KL LGALS3 MCAT MRC1 NCAM1 PCYT1A PDHX PIK3CG PKD1 PLA2G15 PTEN PYGM SDHA SDHB SDHD SLC2A2 SLC2A3 TKT TNKS	1113 1718 23659 2538 2571 2572 2645 27349 28 2820 3098 3630 3636 3958 4360 4684 50 5130 5167 5294 5310 55902 5728 57818 5837 6389 6390 6392 6514 6515 7086 8050 847 8658 9365 960	Homo sapiens (human)
DOID:13001	carotid stenosis Aliases: Carotid artery stenosis Stenosis, carotid artery	ACE ARSA ART4 CD14 CD74 CDS1 CHIT1 CYP2C19 FCGR3B KL LIPC LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTGIS PTGS2 SACM1L SMUG1 ST8SIA4 TLR2 TLR4 TM7SF2 VCAM1	1040 1118 1557 1636 2215 22908 23583 3990 4023 410 420 5130 5290 5291 5293 5294 5740 5743 7097 7099 7108 7412 7903 7941 929 9365 972	Homo sapiens (human)
DOID:0050185	erythema multiforme	ACADS ACSS2 CYP2C19 FOLR1 FOLR2 HSPG2 MASP2 PLA2G15	10747 1557 2348 2350 23659 3339 35 55902	Homo sapiens (human)
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)
DOID:0110921	familial hemophagocytic lymphohistiocytosis 1 Aliases: FHL1 HLH1 HPLH1	SMUG1	23583	Homo sapiens (human)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	Homo sapiens (human)
DOID:10426	Klippel-Feil syndrome Aliases: Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae	ACSS2 AGA B3GLCT CD38 COLEC10 COLEC11 EBP IDUA INPP5E LFNG MAN2B1 MASP1 PLA2G15	10584 10682 145173 175 23659 3425 3955 4125 55902 5648 56623 78989 952	Homo sapiens (human)
DOID:14445	chronic closed-angle glaucoma Aliases: Anatomical narrow angle glaucoma chronic angle-closure glaucoma chronic narrow angle glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:9362	status asthmaticus Aliases: Asthma with status asthmaticus Severe asthma attack	CD14	929	Homo sapiens (human)
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	HSD11B1	3290	Homo sapiens (human)
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	IDS	3423	Homo sapiens (human)
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G Aliases: LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G	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:9675	pulmonary emphysema	ACE ATP6V0A2 CAT CD74 CEACAM5 CEACAM7 CH25H CHI3L1 CYP2B6 EPHX2 FDPS FUT8 GCLC GPX1 IL18R1 ISYNA1 KL LGALS9 LMAN2L MAN1C1 PARP1 PIK3CA PTEN PTGS2 RGN SFTPC SFTPD SGMS2 SIGLEC9 SLC2A10 SMPD2 SMPD3 SOAT1 TLR4 TM7SF2 VCAN	1048 1087 1116 142 1462 1555 1636 166929 2053 2224 23545 2530 27180 2729 2876 3965 51477 5290 55512 57134 5728 5743 6440 6441 6610 6646 7099 7108 81031 81562 847 8809 9023 9104 9365 972	Homo sapiens (human)
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	BRAF IDH1 PIK3CA PIK3CB PIK3CD PIK3CG	3417 5290 5291 5293 5294 673	Homo sapiens (human)
DOID:12043	kernicterus due to isoimmunization	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:1080	filariasis Aliases: disease due to superfamily Filarioidea	ABO CHIT1 GLB1 LGALS2 MBL2	1118 2720 28 3957 4153	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	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)

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