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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 **5176 - 5200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:11125	qualitative platelet defect Aliases: Qualitative platelet deficiency	DLD GOLPH3 HPSE2 HPSE LGALS1 LGALS8 NAAA NAGLU PLA2G1B PLA2G2A PLA2G6 PRNP SELP VCAM1 XYLT1	10855 1738 27163 3956 3964 4669 5319 5320 5621 60495 6403 64083 64131 7412 8398	Homo sapiens (human)
DOID:14110	anus cancer Aliases: anal cancer malignant anal tumor	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)
DOID:12785	diabetic polyneuropathy Aliases: Diabetes mellitus with polyneuropathy Polyneuropathy in diabetes	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	DHCR7 DLD FUT4 KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 SLC35C1 VCAM1	1717 1738 22914 2526 5290 5291 5293 5294 55343 5728 7412 81031	Homo sapiens (human)
DOID:3246	embryonal rhabdomyosarcoma	EFNA1 HPSE ICAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMPD1	10855 142 1942 3383 5290 5291 5293 5294 5728 6609	Homo sapiens (human)
DOID:1964	fallopian tube cancer Aliases: fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant	MRC1	4360	Homo sapiens (human)
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ARSD CAT CD14 CD44 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DPM2 EPHX2 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LGALS3 LPCAT1 MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTGS2 RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1634 1636 2053 231 23583 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3958 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5743 5973 6440 6441 653509 6609 7108 7167 729238 7368 7941 79888 81031 83666 8398 8399 847 8818 929 9365 9468 960	Homo sapiens (human)
DOID:0110538	autosomal recessive nonsyndromic deafness 96 Aliases: DFNB96 autosomal recessive deafness 96	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:3341	osteitis fibrosa Aliases: Osteitis fibrosa cystica generalisata Von Recklinghausen's bone disease hyperparathyroid bone disease	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	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:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PIK3CA PIK3CB PIK3CD PIK3CG PTEN	5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:5572	Beckwith-Wiedemann syndrome	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:0070027	CST3-related cerebral amyloid angiopathy Aliases: Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant	SDC2	6383	Homo sapiens (human)
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	ACOT8	10005	Homo sapiens (human)
DOID:2089	obsolete constipation	ACE ACHE ADH1C AKR1A1 ALDOB ALPP ATRNL1 B3GAT1 CHAT CHST14 COG2 COMT CTNS DDOST EXT2 GAD1 GBA1 HPSE2 MANBA MDH2 MGAM MLYCD OCRL PAFAH1B1 PCCA PCCB PIK3CA PRNP PTEN SDC1 SDHA SDHB SDHC SLC35A2 UGT1A9	10327 1103 113189 126 1312 1497 1636 1650 2132 22796 229 23417 250 2571 26033 2629 27087 4126 4191 43 4952 5048 5095 5096 5290 54600 5621 5728 60495 6382 6389 6390 6391 7355 8972	Homo sapiens (human)
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ABO ACAN ACE ACHE ACOT7 ACSL1 ADH5 ADIPOQ AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEL CEPT1 CHAT CHI3L1 CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FADS2 FASN FCER2 FCGR3B FCN2 FKRP FUCA1 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 INS IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PDX1 PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TLR2 TLR4 TM7SF2 TNF UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 1056 10724 10747 10855 1103 1116 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2517 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3481 3482 353 3554 3630 3635 3636 3651 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 43 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7097 7099 7108 7124 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9370 9415 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0110494	autosomal recessive nonsyndromic deafness 36 Aliases: DFNB36 autosomal recessive deafness 36	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:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:3818	photoallergic dermatitis Aliases: Photoallergic contact dermatitis Photoallergic eczema	AGPS	8540	Homo sapiens (human)
DOID:5353	colonic disease Aliases: colon disorder	FUT2	2524	Homo sapiens (human)
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)
DOID:6228	peritoneal serous papillary adenocarcinoma Aliases: primary serous papillary carcinoma of peritoneum	CEACAM7	1087	Homo sapiens (human)
DOID:11269	chronic apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)

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