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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 **6326 - 6350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1260	parametritis Aliases: pelvic cellulitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:3304	germinoma	Braf	109880	Mus musculus (house mouse)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	Hs6st1	50785	Mus musculus (house mouse)
DOID:355	mast-cell sarcoma	CAT CYP24A1	1591 847	Homo sapiens (human)
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	27315	Homo sapiens (human)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	rgn	403070	Danio rerio (zebrafish)
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKG2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5261 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0050169	cutaneous lupus erythematosus	SOAT1	6646	Homo sapiens (human)
DOID:0111459	classic galactosemia Aliases: GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1	CYP51A1 G6PD GALE GALK1 GALM GALT GP2 LGALS1 UGP2 UGT8	130589 1595 2539 2582 2584 2592 2813 3956 7360 7368	Homo sapiens (human)
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	Pgant1 Pgant3	35627 36717	Drosophila melanogaster (fruit fly)
DOID:0112233	lissencephaly 8 Aliases: LIS8	Tmtc3	237500	Mus musculus (house mouse)
DOID:971	tendinitis	Lrp5	16973	Mus musculus (house mouse)
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 BST2 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SELP SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6403 6646 684 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)
DOID:899	choledochal cyst Aliases: Congenital choledochal cyst bile duct cyst biliary cyst	CD14 SMUG1	23583 929	Homo sapiens (human)
DOID:12704	ataxia telangiectasia Aliases: Boder-Sedgwick syndrome Louis Bar syndrome	ACACA ACAT1 ALOX5 ARSA CAT CD38 ENPP2 G6PD GAA HPRT1 KLRK1 LTC4S NCAM1 PARP10 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PTGS1 SOAT1 TBXAS1 TM7SF2 XYLT2	151056 22914 240 2539 2548 31 3251 38 4056 410 4684 5168 5290 5291 5293 5294 5321 5742 64132 6646 6916 7108 847 84875 952	Homo sapiens (human)
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	ACAN ACE AKR1B10 ALOX12 ALOX12B B3GAT1 CALR CAT CD14 CD1D CD44 CHI3L1 CNTN2 CYP1A1 CYP24A1 CYP2B6 DCN DHCR24 EBP ENPP2 FH GALNTL5 GBA1 HK2 HSD11B1 IL1R1 INPP5A KDSR KL LGALS3 LYZ MCAT MINPP1 MMUT MOGS MRC1 MSMO1 NDUFAB1 NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS1 PTGS2 SCD SDC1 SDC4 SDHD SIRT6 SOAT1 SPHK2 STS VCAM1	10682 1116 1543 1555 1591 1634 1636 168391 1718 176 2271 23509 239 242 2531 2629 27087 27349 3099 3290 3554 3632 3958 4069 412 4360 4594 4706 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 5538 5652 56848 57016 5728 5742 5743 6307 6319 6382 6385 6392 6646 6900 7412 7841 811 847 912 929 9365 9562 960	Homo sapiens (human)
DOID:0080190	malignant epithelioid hemangioendothelioma	SMUG1	23583	Homo sapiens (human)
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7A1 CYP7B1	1581 9420	Homo sapiens (human)
DOID:0080162	lupus nephritis	Tnf	21926	Mus musculus (house mouse)
DOID:0110774	hereditary spastic paraplegia 23 Aliases: Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities	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:7305	astroblastoma	CD44 IDH1 PIK3CA PTEN	3417 5290 5728 960	Homo sapiens (human)
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	ABO ACE ACOX1 ACSBG1 ACSF3 ALOX12 ALPI ALPP AMT ANXA5 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP2B6 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPM2A FCER2 FCGR3B FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 LDHA LGALS1 LGALS3 LGALS9 LY6K MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 OGG1 OPCML PARP1 PARP4 PARP9 PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SHMT1 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10462 1056 10855 10998 1312 142 143 1543 1545 1555 1571 1576 1586 1604 160418 1636 197322 2026 2208 2215 2262 2271 23205 2331 23417 23583 239 248 250 2539 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 3073 308 3099 3161 3251 3383 3417 3418 347734 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4968 4978 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 5506 55556 56848 56994 57103 5728 5730 5743 6382 6401 6470 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	W03G11.3 aldo-1 cht-1 gpdh-3 gspd-1 ogt-1 parp-1 ugt-62	172509 175591 176000 176788 178046 180628 189173 266823	Caenorhabditis elegans

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