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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 **4551 - 4575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1762	cheilitis	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:13166	allergic bronchopulmonary aspergillosis Aliases: pulmonary aspergillus disease	AGA ALOX15 CAT MBL2 SFTPA1 SFTPA2	175 246 4153 653509 729238 847	Homo sapiens (human)
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	ACE	1636	Homo sapiens (human)
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	CDH13 CYP17A1 CYP19A1 PKM PTEN PTGS2 TKTL1	1012 1586 1588 5315 5728 5743 8277	Homo sapiens (human)
DOID:6225	Cronkhite-Canada syndrome Aliases: gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes	PTEN	5728	Homo sapiens (human)
DOID:0110462	autosomal recessive nonsyndromic deafness 101 Aliases: DFNB101 autosomal recessive deafness 101	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:0060784	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Aliases: EEC syndrome 1 EEC1	ENO1 LCT MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2023 3938 4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:13709	premature ejaculation	ACE ACHE ACSS2 ALDH7A1 CDH13 COMT CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1	1012 1312 148738 1588 1636 2026 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 6382 6646 9394	Homo sapiens (human)
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	CD22	933	Homo sapiens (human)
DOID:3664	mast cell neoplasm Aliases: Mast cell Proliferative disease mast cell tumor mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)
DOID:5381	bile duct adenoma Aliases: Cholangioadenoma	BRAF NCAM1	4684 673	Homo sapiens (human)
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	ENO2 GLB1 L1CAM PARP4 PIK3CA PTEN SDHB SDHC	143 2026 2720 3897 5290 5728 6390 6391	Homo sapiens (human)
DOID:9063	Ritter's disease Aliases: Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome Toxic epidermal necrolysis, subcorneal type	EXT1	2131	Homo sapiens (human)
DOID:93	language disorder	ARSD DLD GPD2 PPP1R3A PRPS1 STS	1738 2820 412 414 5506 5631	Homo sapiens (human)
DOID:1076	chronic pyelonephritis	CD55 NAGLU UMOD	1604 4669 7369	Homo sapiens (human)
DOID:11824	multicentric reticulohistiocytosis Aliases: Lipoid dermatoarthritis	SMUG1	23583	Homo sapiens (human)
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	ACE AGL AKR1A1 APRT ARSB ATP6AP2 CALR CPT2 ELOVL4 FCGR3B FUT1 G6PC1 GAA GALC GBE1 GLA GYG1 HPGDS IDS IDUA IGF2R LIPC MAN2B1 MGAM PARP1 PNPLA2 RPE SI SLC17A5 STBD1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10159 10327 1376 142 1636 178 2215 2523 2538 2548 2581 2632 26503 2717 27306 2992 3423 3425 3482 353 3990 411 4125 54575 54576 54577 54578 54579 54600 54657 54658 54659 57104 6120 6476 6785 811 8972 8987	Homo sapiens (human)
DOID:12309	urticaria pigmentosa Aliases: UP/MPCM	CD44 CD72 DHCR24 DLD ENOSF1 ENPP3 GPX1 HSPG2 ICAM1 IDH2 MCAT	1718 1738 27349 2876 3339 3383 3418 5169 55556 960 971	Homo sapiens (human)
DOID:4247	coronary restenosis	ACE CDH13 MBL2 TNF TP53	1012 1636 4153 7124 7157	Homo sapiens (human)
DOID:14498	lipoid proteinosis Aliases: Lipid proteinosis URBACH-WIETHE DISEASE	SFTPC	6440	Homo sapiens (human)
DOID:10071	larynx squamous papilloma Aliases: Laryngeal Squamous Cell Papilloma	PTEN	5728	Homo sapiens (human)
DOID:9622	kidney hypertrophy	ACE ALOX12 CAT DCN KL SIRT6	1634 1636 239 51548 847 9365	Homo sapiens (human)
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	ABO ACACA ACACB ACADSB ACAN ACE ACHE ACOT7 ACSL1 ACSM3 ACSS2 ADH1B ADH1C ADH5 AGA AGPAT1 AGPAT2 AKR1A1 AKR1B10 AKR1B1 AKR1C2 AKR1D1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 ALPI ALPP AMY2A ANXA5 APRT ARSA ASAH2 ATP6AP2 B3GAT1 B4GALNT1 B4GALT1 B4GALT5 BAAT CALR CANX CAT CBR1 CD14 CD1D CD209 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEACAM5 CEL CEPT1 CERS2 CHAT CHGA CHI3L1 CHIT1 CHST3 CLEC16A CLEC1B COMT CPT1A CPT2 CS CSGALNACT1 CTNS CYB5R4 CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP7A1 CYP7B1 CYP8B1 DCN DDOST DEGS1 DEGS2 DGAT1 DGCR2 DGKQ DHCR7 DLAT DLD DSE EFNA1 ELOVL3 ELOVL4 ELOVL5 ENO1 ENO2 ENPP1 EXT2 FADS1 FADS2 FASN FBP1 FCER2 FCGR3B FCN2 FDPS FKRP FOLR2 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNS GALNT3 GAPDHS GAS1 GBA3 GBE1 GCK GFPT1 GGT1 GLA GLB1 GLO1 GLUL GNPNAT1 GPI GPIHBP1 GPX1 GPX3 GUSB GYS1 H6PD HACD1 HAS2 HJV HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B4 HSD17B7 HSD3B1 HSPG2 ICAM1 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPP5F INPPL1 IPPK ISYNA1 ITLN1 ITPK1 KDSR KL KLB KLRC3 KLRD1 KLRK1 LDHB LDHC LGALS1 LGALS2 LGALS3 LGALS4 LIPC LPIN1 LPIN2 LPL LY6G6D LYPD5 LYZ MASP1 MASP2 MBL2 MBOAT7 MDH2 MGAM MGAT1 MGAT2 MGAT5 MICA MIOX MMUT MOGAT2 MPG MPI MTM1 MUTYH NAAA NAGLU NAMPT NCAM1 NDST1 OGA OGG1 OGT OLR1 PARP1 PARP2 PC PCK1 PCK2 PCYT1A PCYT1B PDHX PEMT PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PIP5K1B PKD1 PKLR PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCB3 PLCG1 PMM2 PNPLA2 PNPLA3 PPP1R3A PRKAA2 PRKCSH PRSS21 PRSS8 PSMD10 PTEN PTGDS PTGIS PTGS1 PTGS2 REG1B RENBP RFT1 RTN4R SACM1L SCD SDC2 SDC4 SELE SELL SELP SFTPA1 SFTPC SFTPD SGSH SI SIGLEC5 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC17A5 SLC2A10 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC33A1 SLC35A1 SLC35G1 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SMPD1 SMUG1 SOAT1 SORD SPHK1 SPHK2 SRD5A2 ST3GAL4 ST6GAL1 ST8SIA4 STS SUCLA2 SULT1E1 TALDO1 TKFC TKT TKTL1 TKTL2 TM7SF2 TREH UGCG UGT1A1 UMOD UPP1 VCAM1 VCAN VTCN1 XYLT1 XYLT2	10038 100507436 1012 10135 10159 10327 10390 10400 1048 10554 10555 10559 1056 10724 10747 10855 10942 1103 1113 1116 1118 11181 11332 120227 123099 125 126 128 1312 1374 1376 142 1431 1462 148738 1497 151056 152831 154091 1543 1544 1555 1557 1559 1571 1573 1576 1577 1579 1581 1582 1585 1588 1589 1591 1593 159371 1594 1604 1609 1634 1636 1646 1650 1717 1737 1738 175 176 1942 2023 2026 2132 217 2180 2194 2203 2208 2215 2220 2224 224 22876 22908 22914 22933 231 23175 23236 23274 23409 2350 23583 23659 239 240 247 248 250 2524 2531 2538 2539 2542 2571 2572 2583 2588 2591 26007 2619 2632 26330 2645 26503 266722 2673 2678 2683 27036 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2990 29940 29956 2997 29988 3037 308 30835 3098 3099 31 3158 32 3251 3283 3290 3291 3295 3339 3340 3383 338328 3482 353 3554 36 3635 3636 3705 3823 3824 3945 3948 3956 3957 3958 3960 3990 3992 4023 4069 410 412 4153 4191 4245 4247 4249 43 4350 4351 4534 4594 4595 4669 4684 4968 4973 5091 5105 5106 51167 51266 5130 51477 51478 51548 5167 5209 5236 5290 5291 5293 5294 5310 5313 5319 5320 5329 5331 5335 5373 54658 5506 55586 55600 5563 55790 5589 55902 5648 5652 56624 56848 570 57016 57104 5716 5728 5730 5740 5742 5743 57733 57818 58530 5968 5973 60481 60495 6296 6319 6383 6385 6401 6402 6403 64116 64131 64132 6440 6441 6448 6476 64768 6480 6484 64841 65078 6514 6515 6517 6519 6523 653509 6609 6646 6652 6716 6718 6783 6785 6888 7086 7108 7357 7369 7378 7412 7903 79143 79147 7941 79679 79837 80168 80339 8050 81031 811 821 8277 83401 8395 8398 8399 84076 847 8473 8560 8694 873 8778 8803 8807 8809 8877 8972 912 9173 91869 9197 9200 929 9334 9365 9394 9415 9420 945 9468 9469 9514 952 9563 960 962 9663 972 9993	Homo sapiens (human)
DOID:13405	cardiac sarcoidosis	CALR SMUG1	23583 811	Homo sapiens (human)
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	ALDH1A3 ALDH7A1 ALG2 ALG3 ATP6V1A B3GALNT2 B3GLCT B4GALT7 B4GAT1 CRPPA CYP1B1 DAG1 DHCR7 FKRP FKTN GAS1 GMPPA GMPPB INPP5E LARGE1 PAFAH1B1 PIGL PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRPS1 RXYLT1 SRD5A3	10195 10329 10585 10908 11041 11285 145173 148789 1545 1605 1717 220 2218 2619 29925 29926 29954 501 5048 523 55624 5631 56623 729920 79147 79644 84197 84892 85365 9215 9487	Homo sapiens (human)

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