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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 **851 - 875** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1625	breast adenoma Aliases: Ademoma - breast	PIK3CA PTEN	5290 5728	Homo sapiens (human)
DOID:0060888	transient myeloproliferative syndrome Aliases: MST TAM transient abnormal myelopoiesis transient leukemia transient leukemia of Down syndrome transient myeloproliferative disease	CLEC10A COMT CYP19A1 OVGP1 SIRT4 SLC35G1	10462 1312 1588 159371 23409 5016	Homo sapiens (human)
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ACE ARSH	1636 347527	Homo sapiens (human)
DOID:6367	acral lentiginous melanoma Aliases: acral lentiginous melanoma, malignant malignant acral lentiginous melanoma	PLD1 PTEN	5337 5728	Homo sapiens (human)
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ACE AKR1A1 ALDH2 ICAM1 KL PCYT1A SMUG1	10327 1636 217 23583 3383 5130 9365	Homo sapiens (human)
DOID:0110559	autosomal dominant nonsyndromic deafness 2B Aliases: DFNA2B autosomal dominant deafness 2B	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:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	COMT LCT	1312 3938	Homo sapiens (human)
DOID:0060839	isolated microphthalmia 2 Aliases: MCOP2	ALDH1A3	220	Homo sapiens (human)
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)
DOID:5828	endometrioid ovary carcinoma Aliases: Ovarian endometrioid carcinoma endometrioid carcinoma ovary	MRC1 PIK3CA PTEN PTGS2	4360 5290 5728 5743	Homo sapiens (human)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B LRP5	144245 4041 84920	Homo sapiens (human)
DOID:2566	corneal dystrophy	AGK CHST6 CTSA ELOVL4 GCDH GLA GNPTAB LCAT SELP STS	2639 2717 3931 412 4166 5476 55750 6403 6785 79158	Homo sapiens (human)
DOID:1342	congenital hypoplastic anemia Aliases: congenital aplastic anaemia congenital aplastic anemia congenital hypoplastic anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	SYNJ1 SYNJ2	8867 8871	Homo sapiens (human)
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	CMAS GFRA1 TNFRSF10C VCAM1	2674 55907 7412 8794	Homo sapiens (human)
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	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:7489	Osgood-Schlatter's disease Aliases: Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia juvenile osteochondrosis of tibial tubercle	COL9A2	1298	Homo sapiens (human)
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	GHRL	51738	Homo sapiens (human)
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	ACACA ACE ACSL4 ACSL5 AKR1C4 ALG1 ANXA5 APRT ARSA ARSF BCKDHB BDH2 BST2 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD72 CD74 CDH13 CEPT1 CHST12 CLEC16A CLEC7A CNTN6 COG6 COMT CYP19A1 CYP1A1 CYP21A2 CYP24A1 CYP2B6 CYP2C19 CYP2E1 CYP3A5 DAG1 DGAT1 DGKQ DLAT EFNA2 EFNA5 ENO1 EPHX2 FCGR3B FCN2 FCN3 FH FUT2 GALC GCK GLO1 GPI HPGDS HPRT1 HSD11B1 HSD17B6 HSPG2 ICAM1 ICAM5 IL18R1 IL18RAP IL1R1 IL1RAP INPP5D KLRB1 KLRC1 KLRD1 KLRK1 L1CAM LCT LGALS1 LGALS3 LGALS8 LGALS9 LYZ MAN2A1 MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MRC1 MTMR3 NCAM1 NEU1 OGG1 PARP1 PC PDHX PGK1 PGM1 PIGF PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2R1 PLB1 PLD2 PLD4 PNP PRKAA2 PRPS2 PTEN PTGDS PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC2 SELE SELL SELP SEMA7A SFTPD SGMS1 SIGLEC12 SIGLEC1 SIGLEC5 SIGLEC6 SLC2A4 SLC39A8 SMPD1 SMUG1 SOAT1 SPHK2 ST8SIA4 TNF TNFRSF10C TPI1 UMOD VCAM1 VTCN1	100507436 1012 10390 10747 1109 122618 1312 142 151056 1543 1555 1557 1571 1577 1588 1589 1591 1605 1609 161357 1636 1737 1943 1946 2023 2053 2182 2215 2220 2271 22914 22925 23274 23583 2524 2581 259230 2645 27255 27306 2739 2821 308 31 3251 3290 3339 3383 353 3554 3556 3635 3820 3821 3824 3897 3938 3956 3958 3964 3965 4069 410 4124 4153 416 4249 4360 4684 4758 4860 4968 5091 51703 5230 5236 5281 5286 5290 5291 5293 5294 5320 5338 55501 5563 56052 5634 5648 56848 56898 5728 5730 5742 5743 57511 594 5973 6382 6383 6401 6402 6403 64116 6441 64581 6517 6609 6614 6646 684 7087 7124 7167 7369 7412 7903 79679 79966 8050 811 8434 847 8482 8547 8630 8694 8778 8794 8807 8809 8897 8930 89858 912 929 933 945 946 952 960 962 971 972	Homo sapiens (human)
DOID:0111458	galactose epimerase deficiency Aliases: GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency	GALE GALK1 GALT	2582 2584 2592	Homo sapiens (human)
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	ALOX12B STS	242 412	Homo sapiens (human)
DOID:0060543	Hermansky-Pudlak syndrome 5	PRKAA2	5563	Homo sapiens (human)
DOID:7457	enterobiasis Aliases: Oxyuris vermicularis infection Threadworm infection	ABO CD38 CD44 COLEC11 FCER2 FCN2 HPGDS LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 27306 28 284348 3958 4153 5091 78989 952 960	Homo sapiens (human)
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	AMT DGAT1 GPIHBP1 LCAT LPL PNPLA2	275 338328 3931 4023 57104 8694	Homo sapiens (human)

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