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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1026 - 1050** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0050648	atelosteogenesis	ANXA5 PARP1 SLC26A2	142 1836 308	Homo sapiens (human)
DOID:4367	apparent mineralocorticoid excess syndrome Aliases: 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid excess	CHST3 HSD11B1 HSD11B2 PIK3CA	3290 3291 5290 9469	Homo sapiens (human)
DOID:13195	nontoxic goiter Aliases: Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre	ABO ALPP ATRNL1 CEACAM5 CEACAM7 GGT1 IDH1 IDH2 LDHA PIK3CA PKM PLA2G2A PLA2G6 PTEN PTGDS SDHB SDHC SDHD TM7SF2	1048 1087 250 26033 2678 28 3417 3418 3939 5290 5315 5320 5728 5730 6390 6391 6392 7108 8398	Homo sapiens (human)
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2 SUCLG1 TYMP	1890 8802 8803	Homo sapiens (human)
DOID:2079	eccrine mixed tumor of skin Aliases: Eccrine mixed tumor Eccrine mixed tumour eccrine mixed tumour of skin mixed Eccrine neoplasm of the skin	CEACAM5	1048	Homo sapiens (human)
DOID:7095	childhood epithelioid sarcoma Aliases: pediatric epithelioid sarcoma	CD109 NT5E PTEN	135228 4907 5728	Homo sapiens (human)
DOID:0110539	autosomal recessive nonsyndromic deafness 97 Aliases: DFNB97 autosomal recessive deafness 97	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:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ACADM BCKDHA BCKDHB CPT2 DBT ICAM1	1376 1629 3383 34 593 594	Homo sapiens (human)
DOID:0110127	Bardet-Biedl syndrome 5 Aliases: BBS5	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:4012	papillary transitional carcinoma Aliases: Papillary transitional cell carcinoma	AKR1C3 PKM PTEN	5315 5728 8644	Homo sapiens (human)
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	DHCR24 EBP FDFT1 GNPAT NSDHL STS	10682 1718 2222 412 50814 8443	Homo sapiens (human)
DOID:914	peliosis hepatis Aliases: hepatic peliosis	SMUG1	23583	Homo sapiens (human)
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	ENGASE NGLY1 PGM1	5236 55768 64772	Homo sapiens (human)
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ARSD CAT CD14 CD44 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DPM2 EPHX2 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LGALS3 LPCAT1 MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTGS2 RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1634 1636 2053 231 23583 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3958 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5743 5973 6440 6441 653509 6609 7108 7167 729238 7368 7941 79888 81031 83666 8398 8399 847 8818 929 9365 9468 960	Homo sapiens (human)
DOID:0110119	autoimmune lymphoproliferative syndrome type 3 Aliases: ALPS3 autoimmune lymphoproliferative syndrome type III	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	SLC3A1	6519	Homo sapiens (human)
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	ABAT ACE ACHE ACSF3 ADH1B AKR1A1 ALDH2 ALOX5 ARSA ARSD CAT CD38 CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 DLST ELOVL3 ELOVL6 FKRP FUT10 GAD1 GAD2 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 IRS2 KL LGALS3 LGALS4 MYORG NAGLU NAMPT NEU3 NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SLC2A4 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 TKT UGT1A1	10020 10135 10327 10724 10825 1103 1116 125 1312 1374 138050 142 1544 1545 1636 1743 18 197322 217 23583 240 2571 2572 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 6517 653509 6609 7086 79071 79147 83401 8398 847 84750 8660 8803 8867 9365 952 960 972	Homo sapiens (human)
DOID:4554	type C thymoma Aliases: Thymoma, type C	CD74 HACD1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGES2 PTGES PTGS2 SMUG1	23583 5290 5291 5293 5294 5728 5743 80142 9200 9536 972	Homo sapiens (human)
DOID:0110239	cataract 12 multiple types Aliases: CTRCT12	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:813	septic arthritis Aliases: infectious arthritis	ACAN ACLY ACSS2 FUT4 PLA2G15 SMUG1	176 23583 23659 2526 47 55902	Homo sapiens (human)
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	ACE	1636	Homo sapiens (human)
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RTN4R SCD SDC1 SDC2 SDHB SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 117145 1178 1271 1272 1298 135228 142 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6390 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98	Homo sapiens (human)
DOID:13812	adhesions of uterus Aliases: Band of uterus Intrauterine adhesions Intrauterine synechiae	SDC1	6382	Homo sapiens (human)

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