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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 **1526 - 1550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	Axn Calr	41166 43565	Drosophila melanogaster (fruit fly)
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	SYNJ1 SYNJ2	8867 8871	Homo sapiens (human)
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	Gck	103988	Mus musculus (house mouse)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	Chsy1	269941	Mus musculus (house mouse)
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:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	poglut1	641495	Danio rerio (zebrafish)
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	Akt1 Pik3ca	170911 24185	Rattus norvegicus (Norway rat)
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:0090139	cortisone reductase deficiency Aliases: CORTRD	H6pd	100198	Mus musculus (house mouse)
DOID:4717	extragonadal germ cell cancer Aliases: extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell	PLCB3	5331	Homo sapiens (human)
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	Dhtkd1	361272	Rattus norvegicus (Norway rat)
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:0050700	cardiomyopathy Aliases: Cardiomyopathies	pomt1	569769	Danio rerio (zebrafish)
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	GHRL	51738	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	alg1 alg3 b4galt1 b4galt1l	334161 550425 553725 768123	Danio rerio (zebrafish)
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:5419	schizophrenia Aliases: schizophrenia-1	akt1.S b3gat2.L b3gat2.S	108716933 399170 733177	Xenopus laevis (African clawed frog)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	Alg1 Alg3 B4galt1 Pmm2	14595 208211 208624 54128	Mus musculus (house mouse)
DOID:0060543	Hermansky-Pudlak syndrome 5	PRKAA2	5563	Homo sapiens (human)
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	b4gat1 fkrp fktn large1 pomgnt1 pomt1	100006345 101669768 446213 569769 571426 571876	Danio rerio (zebrafish)
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)
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	94273	Rattus norvegicus (Norway rat)

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