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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 **6076 - 6100** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	ACADS AKR1B1 ALDH2 AMT ANXA5 ARSA ARSD B4GALT7 BAAT CAT CD38 CHPT1 COMT CYP11A1 CYP3A5 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 OLR1 PARP1 PCYT1A PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 1312 142 1577 1583 1605 1634 217 231 2348 2597 2653 2720 2731 275 2821 308 3339 35 410 412 414 4968 4973 5130 5224 5290 5291 5293 5294 5315 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365 952	Homo sapiens (human)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	ABO ACACA ACSS2 AKR1B1 AKR1C3 ALPI ALPP ANXA5 APRT B3GAT1 CALR CAT CD14 CD22 CD33 CD38 CD44 CD48 CD55 CD72 CEACAM6 CEL CERS6 CHI3L1 CNTFR CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP2C8 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ENO2 EXT1 FADS1 FH FUT4 G6PD GAD1 GCNT2 GGT1 HK1 HPGDS HPRT1 HSD11B2 ICAM1 IDH1 IDH2 IGF2R IL18R1 IL1RL1 LIPA LSS MAN2A1 MTAP MUTYH NAAA NAMPT NCAM1 NT5E OGG1 PARP1 PARP9 PFKFB2 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PLA2G15 PNP PRKAA2 PRPS1 PTEN PTGES3 PTGS2 SELE SFTPD SHMT1 SLC27A5 SOAT1 SPHK2 SRD5A2 UGT1A6 UMOD UNG	10135 1056 10728 10998 1116 1271 142 1543 1544 1545 1555 1558 1571 1576 1577 1604 2026 2131 2271 231 23659 248 250 2526 253782 2539 2571 2651 2678 27087 27163 27306 28 308 3098 31 3251 3291 3383 3417 3418 3482 353 3988 3992 4047 4051 4124 4507 4595 4680 4684 4860 4907 4968 5208 5290 5291 5293 5294 5305 54578 5563 55902 5631 56848 5728 5743 6401 6441 6470 6646 6716 7369 7374 811 83666 847 8644 8809 9173 929 933 945 952 960 962 971	Homo sapiens (human)
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	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:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative Aliases: aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia	AKR1B1 CD33 CD38 CDH13 CEACAM5 CYP3A5 DLD EBP ETNK1 FCER2 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 NCAM1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 VCAM1	1012 1048 10682 1577 1738 2208 22914 231 2539 27036 27306 28992 3383 3417 3418 4684 5130 5286 5290 5291 5293 5294 5506 55500 5728 5743 7412 8809 9126 9215 945 952	Homo sapiens (human)
DOID:1838	Menkes disease Aliases: COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome	CD38 PGK1	5230 952	Homo sapiens (human)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)
DOID:0060119	pharynx cancer Aliases: pharyngeal neoplasm pharynx neoplasm	ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AKR1A1 CYP1A1 CYP2E1 PIK3CA	10327 124 125 126 127 128 131 1543 1571 5290	Homo sapiens (human)
DOID:0070127	congenital nongoitrous hypothyroidism 3 Aliases: CHNG3	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)
DOID:0060466	gingival fibromatosis Aliases: hereditary gingival fibromatosis hereditary gingival hyperplasia	HAS3 HPSE ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG SLC2A4	10855 3038 3383 5290 5291 5293 5294 6517	Homo sapiens (human)
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)
DOID:1934	dysostosis	GLB1 LFNG	2720 3955	Homo sapiens (human)
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	DPEP1	1800	Homo sapiens (human)
DOID:0110528	autosomal recessive nonsyndromic deafness 83 Aliases: DFNB83 autosomal recessive deafness 83	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:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ACACA ACE ACHE ACLY ACOT8 ACSS1 ACSS2 ADH1A ADH1B ADH1C ADH7 AGL AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH3A1 ALDH3A2 ALDH7A1 ALG13 ALG1 ALOX15B ALOX5 AMACR ANXA4 ANXA5 APRT ARSF ATRNL1 B3GALNT1 B3GAT1 B3GNT3 BAAT BAD CA4 CACNA2D2 CALR CAT CBR1 CD14 CD177 CD1D CD33 CD38 CD44 CD55 CD74 CD93 CDH13 CEACAM5 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHKA CHODL CHPT1 CNTN1 CNTN2 COMT CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 DCN DHCR24 DHDDS DHDH EFNA1 ENO1 ENO2 EXTL3 FASN FBP1 FBXO17 FCGR3B FH FOLR2 FUT4 FUT8 G6PD GALC GALNS GALNT14 GAPDH GCNT3 GFPT2 GLDC GLUL GML GOLPH3 GPC3 GPC5 GPX1 GPX3 HAGH HAS2 HAS3 HK1 HK2 HMMR HPGDS HPRT1 HPSE HS3ST2 HS3ST3B1 HSD11B2 HSD17B1 HSD17B6 HYAL1 ICAM1 IDH1 IDH2 IGF2R IL18R1 INPP4A INPP5D INPPL1 KAT2A KHK KL KLB KLRB1 KLRD1 KLRK1 L1CAM LDHA LDHB LDHC LEP LGALS1 LGALS3 LGALS9 LIPC LPCAT1 LPIN3 LPL LY6K LYPD3 LYPD5 LYPLA1 MBD4 MBL2 MCAT MDH1 MDH2 ME1 ME2 MICA MMUT MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PAPSS1 PARP1 PC PCK2 PDIA3 PFKFB3 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCB3 PLCB4 PLCE1 PLCG1 PLCH1 POGLUT1 PPT1 PRG2 PRKAA1 PRKAA2 PRSS8 PSMD10 PTEN PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB RECK RGMB RGN RPN2 RTN4R SCD SDC4 SDHA SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT2 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A3 SLC2A5 SLC3A2 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA2 STS SULF2 TIGAR TM7SF2 TMTC3 TNF TNFRSF10C TNKS2 TNKS TP53 TREH TUSC3 TYMP UGCG UGP2 UGT1A1 UGT1A7 UGT1A9 ULBP1 UMPS UNG VCAM1 VTCN1 XXYLT1	10005 100507436 1012 10135 10232 10327 10331 10434 1048 10728 10825 10855 1087 1113 1116 11181 1119 115290 120227 124 125 126 1272 131 1312 140578 142 151056 152002 152831 1543 1544 1545 1555 1557 1558 1559 1571 1576 1577 1586 1588 1591 1593 1594 1604 160418 1634 1636 1645 1646 1718 178 1836 1890 1942 2023 2026 207 2137 218 219 2194 220 2203 2215 224 2262 2271 22914 22918 22933 23007 23409 2350 23583 23600 240 247 2526 2530 253782 2539 2581 2588 259230 2597 26033 2648 26503 27076 27087 27180 2719 27294 27306 2731 27349 2752 2765 284348 285704 2876 2878 2923 3029 3037 3038 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3417 3418 3482 353 3631 3635 3636 3795 3820 3824 3897 3939 3945 3948 3952 3956 3958 3965 3990 4023 4051 412 4153 416 4190 4191 4199 4200 43 4350 4360 4507 4594 4595 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51548 5209 5223 5230 5287 5289 5290 5291 5293 5294 5310 5315 5320 5321 5329 5331 5332 5335 54577 54600 54658 54675 54742 5538 5552 5553 5562 5563 55902 55959 56052 5652 56848 56983 56994 570 57016 57103 57126 5716 572 57214 5728 5740 5742 5743 5834 6185 6319 6385 6389 6391 6401 64083 6440 6441 6472 6480 64900 65078 6515 6518 6520 6523 653509 6609 6646 6900 7108 7124 7157 729238 7357 7360 7372 7374 7412 762 79623 79661 79679 79868 79888 7991 79947 80329 80351 811 8128 8398 8399 8434 84532 847 8630 8644 8658 8706 873 8794 8809 8877 8930 9061 9104 912 9245 9254 929 9365 945 952 9536 960 972 9945 9953 9956	Homo sapiens (human)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ENPP1 NT5E	4907 5167	Homo sapiens (human)
DOID:10974	oophoritis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:6620	X-linked hyper IgM syndrome Aliases: HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:12678	hypercalcemia	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:1003	pelvic inflammatory disease Aliases: PID	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)
DOID:0060227	Adams-Oliver syndrome Aliases: Adams Oliver syndrome	EOGT	285203	Homo sapiens (human)
DOID:0110114	atrial heart septal defect 9 Aliases: ASD9 atrial septal defect 9	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)

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