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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 **876 - 900** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:474	histiocytoid hemangioma Aliases: Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:4737	somatoform disorder Aliases: physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder	ACE COMT	1312 1636	Homo sapiens (human)
DOID:4734	calciphylaxis	NT5E	4907	Homo sapiens (human)
DOID:4730	vasomotor rhinitis	ABO ACACA ACE ADH1B AGXT AKR1B1 AMY1A AMY1B AMY1C CAT CD14 CHI3L1 CHIA CHIT1 CLC CLEC16A CTBS ENPP3 HACD1 ICAM1 IL18R1 IL1RL1 IL1RL2 KLB KLRC1 LGALS3 LTC4S LYZ MBL2 NEU1 NEU2 NT5E PARP1 PCYT1B PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLB1 PLCG2 PTGS2 SFTPA1 SFTPA2 SFTPD SIGLEC7 SOAT1 ST8SIA2 UGT8	1116 1118 1178 125 142 1486 151056 152831 1636 189 231 23274 27036 27159 276 277 278 28 31 3383 3821 3958 4056 4069 4153 4758 4759 4907 5169 5238 5290 5291 5293 5294 5319 5336 5743 6441 653509 6646 729238 7368 7941 8128 847 8808 8809 9173 9200 929 9468	Homo sapiens (human)
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ACADM BCKDHA BCKDHB CPT2 DBT ICAM1	1376 1629 3383 34 593 594	Homo sapiens (human)
DOID:4723	intracranial hypotension	IDUA	3425	Homo sapiens (human)
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)
DOID:4702	mongolian spot Aliases: Mongolian Macula	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:47	prostate disease	CAT CYP17A1 CYP19A1 FMOD GLCE GPX1 PTEN SRD5A2 TM7SF2	1586 1588 2331 26035 2876 5728 6716 7108 847	Homo sapiens (human)
DOID:4697	perineurioma Aliases: soft tissue Perineurioma	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:4692	endophthalmitis	NTM TNF	50863 7124	Homo sapiens (human)
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	HK2 PIK3CA PTEN PTGS2	3099 5290 5728 5743	Homo sapiens (human)
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	DCN PIK3CA PIK3CB PIK3CD PIK3CG	1634 5290 5291 5293 5294	Homo sapiens (human)
DOID:468	intramuscular hemangioma Aliases: Intramuscular Angioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:4677	keratitis	ALOX12B ARSA CAT CD38 CERS3 CHI3L1 CLEC4E CLEC7A OLR1 PLA2G1B PLA2G2A PLA2G6 PLB1 PLD3 SIRT6 TLR2 TLR4	1116 151056 204219 23646 242 26253 410 4973 51548 5319 5320 64581 7097 7099 8398 847 952	Homo sapiens (human)
DOID:4676	uremia Aliases: UREMIA OF renal ORIGIN	ACE ACSS2 AGL AGXT AKR1B1 ALPL ALPP APRT ATP6AP2 ATRNL1 CAT COMT CTSA CYP11B2 CYP24A1 CYP3A4 DCN DEGS1 DGKE ENPP1 FCGR3B G6PC1 GCNT2 GGT1 GLA HAGH HSPG2 ICAM1 IDH2 KL KLB LCAT LYZ MASP1 MBL2 NAMPT OCRL PARP1 PIK3C3 PKD1 PKD2 PLA2G15 PLA2G7 PTGS1 PTGS2 RENBP RGN SDC1 SDC2 SELL SLC17A5 SLC35G1 SMUG1 TM7SF2 UMOD VCAM1	10135 10159 1312 142 152831 1576 1585 1591 159371 1634 1636 178 189 2215 231 23583 23659 249 250 2538 26033 26503 2651 2678 2717 3029 3339 3383 3418 353 3931 4069 4153 4952 5167 5289 5310 5311 5476 55902 5648 5742 5743 5973 6382 6383 6402 7108 7369 7412 7941 847 8526 8560 9104 9365	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:467	venous hemangioma	LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG TM7SF2	3958 5290 5291 5293 5294 7108	Homo sapiens (human)
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)
DOID:4660	indolent systemic mastocytosis Aliases: ISM	CALR CD33 CD38 CEL ETNK1 FCER2 FH HS2ST1 ICAM1 IDH2 PLA2G2E SMPD1	1056 2208 2271 30814 3383 3418 55500 6609 811 945 952 9653	Homo sapiens (human)
DOID:4659	extracutaneous mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)
DOID:4658	benign mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 5973 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:4647	trilateral retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:4644	epidermolysis bullosa simplex	GALK1 PLOD3	2584 8985	Homo sapiens (human)

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