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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 **7651 - 7675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	Hmgb1 Pcna Ucp2	15289 18538 22228	Mus musculus (house mouse)
DOID:4030	eosinophilic gastritis	SIGLEC8	27181	Homo sapiens (human)
DOID:3304	germinoma	Braf	109880	Mus musculus (house mouse)
DOID:0090027	split hand-foot malformation 2 Aliases: SHFM2	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	Braf	109880	Mus musculus (house mouse)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:0110512	autosomal recessive nonsyndromic deafness 6 Aliases: DFNB6 autosomal recessive deafness 6	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:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	ABO ACE CHIT1 COL9A2 FDFT1 GLA GLO1 GPX1 LGALS3 LPIN2 LYZ MICA PIK3CG PRNP STS TNF	100507436 1118 1298 1636 2222 2717 2739 28 2876 3958 4069 412 5294 5621 7124 9663	Homo sapiens (human)
DOID:3891	placental insufficiency	ABO ACACA ACADVL ACE ACSL4 ADH1B AGA AKR1A1 AKR1B1 ALDH2 ALDH3A1 ALG12 ALG13 ALG1 ALG8 ANXA5 ATP6V0A2 ATP6V1A B3GLCT BCKDHA CALR CAT CD74 CEL CHPT1 CNTN1 COG1 COG4 COG5 COG6 COG7 COMT CPT1A CPT2 CRYL1 CYB5R3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP2E1 CYP7A1 DCN DHCR24 DHCR7 DLAT FCN2 FCN3 FIG4 FKTN FUT8 G6PC1 GALC GALK1 GAPDH GAS1 GBA1 GCK GK GLUL GPC1 GPC3 GPI GPX1 H6PD HADH HADHA HADHB HAS2 HK1 HSD11B2 HSD17B1 IGF2R IL1RAPL1 KL KLRB1 LDHC LFNG LGALS2 LGALS3 LIPG LPL MAG MASP1 MBL2 MPI MTM1 MYORG NGLY1 OGDH PCK1 PDHA1 PDHX PDX1 PFKFB2 PIGF PIGG PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLCG1 PLOD3 PNPLA6 POMT1 PPARGC1A PRKAA2 PRNP PRPS1 PTDSS1 PTEN PTGS2 SC5D SDC1 SDHA SDHB SDHD SIRT2 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMC3 STT3B TALDO1 TGDS UGDH UPP1 VCAM1 VTCN1 XYLT1	10327 10466 10559 1056 10585 10891 10908 11141 125 1272 1312 1374 1376 145173 1543 1571 1581 1583 1584 1586 1588 1634 1636 1717 1718 1727 1737 175 1836 201595 217 218 2182 2218 2220 22933 231 23483 23545 2530 2538 2581 25839 2584 2597 2619 2629 2645 2710 2719 2752 28 2817 2821 2876 3030 3032 3033 3037 308 3098 31 3291 3292 3482 3651 37 3820 3948 3955 3957 3958 4023 4099 4153 4351 4534 4967 5105 51084 5160 5208 523 5281 5286 5290 5291 5293 5294 5311 5335 54872 5563 55768 56052 5621 5631 5648 56994 5728 5743 57462 57511 593 6309 6382 6389 6390 6392 64131 6514 6515 6517 6888 7355 7358 7378 7412 79053 79087 79679 79868 8050 811 847 8547 8985 9126 91949 9197 9365 9382 9388 9563 972 9791 9896	Homo sapiens (human)
DOID:14773	cartilage-hair hypoplasia Aliases: CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type	CAT CYP3A4 EBP HS6ST1 KLB	10682 152831 1576 847 9394	Homo sapiens (human)
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	AKR1A1 CAT CBR1 CYP11B1 CYP11B2 CYP2B6 GML GPX1 ISYNA1	10327 1555 1584 1585 2765 2876 51477 847 873	Homo sapiens (human)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	Kcnj11	83535	Rattus norvegicus (Norway rat)
DOID:8778	Crohn's disease Aliases: Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease	ugt1a7 ugt1ab	100384891 406731	Danio rerio (zebrafish)
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARSA HK1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 3958 410 5290 5291 5293 5294 5315 6383	Homo sapiens (human)
DOID:0050980	spinocerebellar ataxia type 31	PRNP	5621	Homo sapiens (human)
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	Gclc Igf2 Myc Parp1 Pgf Phkg2 Rbp4 Tlr4 Tnf	140671 24483 24577 24835 25283 25591 25703 29260 94203	Rattus norvegicus (Norway rat)
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:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	CYP19A1 LRP5	1588 4041	Homo sapiens (human)
DOID:0080001	bone disease	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6646 81031 8985 933 9365	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	100000478	Danio rerio (zebrafish)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	dgat2 ins	30262 565316	Danio rerio (zebrafish)
DOID:0050573	2-hydroxyglutaric aciduria	IDH1 IDH2 L2HGDH SLC25A1	3417 3418 6576 79944	Homo sapiens (human)
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	Bad Cs Nr1d1 Pcna Phka1 Plod3 Ucp2	12015 12974 18538 18679 217166 22228 26433	Mus musculus (house mouse)
DOID:418	systemic scleroderma Aliases: Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis	CTS2	851977	Saccharomyces cerevisiae S288C

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