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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 **3851 - 3875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)
DOID:3451	skin carcinoma Aliases: carcinoma of skin	CYP1A1 CYP27A1 CYP27B1 HPGDS HSD11B2 INPP5K MICA MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	100507436 1543 1593 1594 27306 3291 4360 51763 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:8568	infectious mononucleosis Aliases: Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis	KLRD1 NCAM1	3824 4684	Homo sapiens (human)
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	CYP3A4 FUT4 NYX PCYT1B RPE SORD	1576 2526 60506 6120 6652 9468	Homo sapiens (human)
DOID:0050328	congenital hypothyroidism	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT CAT CDH13 COMT CPT1C CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PPARGC1A PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3	10020 1012 10891 126129 1312 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5167 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 5728 5743 6515 6715 79053 79644 80339 847 8879 8985 9415 9526	Homo sapiens (human)
DOID:5223	infertility	ABO ACOT7 BAAT CD14 CD44 CYP17A1 EFNA5 GBA2 H6PD HJV HSD17B1 HSD17B3 KL PLCB1 PLCZ1	11332 148738 1586 1946 23236 28 3292 3293 570 57704 89869 929 9365 9563 960	Homo sapiens (human)
DOID:5679	retinal disease	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CEPT1 CHAT CHI3L1 CHPT1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLA2G6 PLA2G7 PLCB4 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	10390 1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 23761 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5332 5338 55624 56848 56994 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:4551	anus benign neoplasm Aliases: anal neoplasm anal tumors neoplasm of anus	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	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:3241	lipid pneumonia Aliases: Exogenous lipoid pneumonia Lipoid pneumonitis	SMUG1	23583	Homo sapiens (human)
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C Aliases: DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type	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 SULT1E1 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 6783 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:0060599	Nance-Horan syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:6658	pulmonary large cell neuroendocrine carcinoma	CHGA ENO2 ENO3 IDH2 KL NCAM1 PGK1 SDHD	1113 2026 2027 3418 4684 5230 6392 9365	Homo sapiens (human)
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ACACA ACADM ACADVL ACE ACHE ACOT7 ADH1A ADH1B ADH1C AKR1A1 AKR1B10 AKR1C1 AKR1D1 ALDH1B1 ALDH2 ALPP AMACR ARSH ASAH2 ATP6AP1 ATP6AP2 ATRNL1 CCDC115 CD14 CD1D CD209 CEACAM5 CEACAM7 CFC1 CHI3L1 CLEC1B COMT CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP4F3 CYP51A1 CYP7A1 CYP7B1 DLAT EHHADH ENO3 ENPP2 EXT1 FUT1 FUT2 G6PC1 GALT GANAB GBE1 GGT1 GLO1 GLUL GOLPH3 GP2 GPC3 GUSB H6PD HADH HADHA HAS1 HAS3 HK3 HMGCS2 HPGDS HSD11B1 HSD17B6 HSD3B7 ICAM1 IGF2R IL1RAP IMPA1 ISYNA1 KDSR KLRK1 LCAT LGALS3 LGALS9 LIPA LYZ MAN1B1 MASP1 MBL2 MBOAT7 MICA MPI MTAP NAGA NAMPT NCAM1 NEIL1 NTM OGG1 OLR1 OPCML PEMT PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G5 PMM2 PNPLA3 POFUT1 PRKAA2 PRKCSH PTEN PTGS2 RENBP RGN SC5D SDC1 SELP SIGLEC7 SIRT6 SLC17A5 SLC35A2 SMUG1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA1 ST8SIA4 STS SULT1E1 TALDO1 TKFC TKT TM7SF2 TMEM199 TNF UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMOD VCAM1 XYLT2	100507436 10135 10159 10327 10400 1048 1087 1116 11253 11332 124 125 126 1312 147007 1543 1544 1545 1555 1557 1559 1571 1576 1581 1586 1595 1636 1645 1737 1962 2027 2131 217 219 22914 23193 23509 23583 23600 250 2523 2524 2531 2538 2592 26007 26033 2632 26503 2678 27036 2719 27306 2739 2752 2813 2990 3030 3033 3036 3038 30835 31 3101 3158 3290 3383 34 347527 3482 3556 3612 37 3931 3958 3965 3988 4051 4069 412 4153 43 4351 4507 4668 4684 4968 4973 4978 50863 51266 51477 51548 5168 5290 5291 5293 5294 5315 5322 537 5373 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 5589 55997 5648 56624 56848 56886 57016 5728 5743 5973 6309 6382 6403 64083 64132 6480 6484 6489 6716 6718 6783 6888 7086 7108 7124 7355 7364 7369 7412 7903 79143 79661 80270 80339 84317 8630 9104 912 929 9420 9563	Homo sapiens (human)
DOID:0110255	cataract 5 multiple types Aliases: CTRCT5	AGK ALDH7A1 B3GAT1 CEACAM5 COG4 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 ICAM1 INPP5K LSS OCRL PTEN SLC33A1 SORD	1048 1593 2262 25839 2584 2651 27087 3383 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	ACE CD38 GLO1 PGM3 SDC1	1636 2739 5238 6382 952	Homo sapiens (human)
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:3857	large cell medulloblastoma Aliases: Anaplastic medulloblastoma	PARP1	142	Homo sapiens (human)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)
DOID:0111087	Fanconi anemia complementation group C Aliases: FA3 FACC FANCC Fanconi pancytopenia type 3	GCK	2645	Homo sapiens (human)
DOID:10211	cholelithiasis	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:2862	glucosephosphate dehydrogenase deficiency Aliases: Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD	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:0050585	congenital generalized lipodystrophy	AGPAT2 AGPS PCYT1A PNPLA2	10555 5130 57104 8540	Homo sapiens (human)
DOID:297	pleomorphic adenoma carcinoma Aliases: carcinoma ex pleomorphic adenoma carcinoma in pleomorphic adenoma	FASN	2194	Homo sapiens (human)

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