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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 **4826 - 4850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)
DOID:0110518	autosomal recessive nonsyndromic deafness 67 Aliases: DFNB67 autosomal recessive deafness 67	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:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	PRNP	5621	Homo sapiens (human)
DOID:987	alopecia	ABO ACAT1 ACE ACER1 AGA AGXT AKR1C4 ALOX12B ATP6V0A2 CERS3 CYP17A1 CYP19A1 CYP27B1 DCN DGAT1 EBP EOGT FADS2 FAR2 FUT3 HPGDS HSD11B1 HSD3B1 ICAM1 KDSR KLRK1 LSS PARP1 PCYT1A PLCD1 PNPLA6 PRNP PRSS8 PTGDS PTGS2 SHMT1 SOAT1 SRD5A1 SRD5A2 ST3GAL4 STS VCAN	10682 10908 1109 125981 142 1462 1586 1588 1594 1634 1636 175 189 204219 22914 23545 242 2525 2531 27306 28 285203 3283 3290 3383 38 4047 412 5130 5333 55711 5621 5652 5730 5743 6470 6484 6646 6715 6716 8694 9415	Homo sapiens (human)
DOID:2977	primary hyperoxaluria	AGXT APRT CRYL1 GLYCTK GRHPR H6PD HAO1 HAO2 HOGA1 SMUG1 SULT1E1 UGDH	112817 132158 189 23583 353 51084 51179 54363 6783 7358 9380 9563	Homo sapiens (human)
DOID:0110585	autosomal dominant nonsyndromic deafness 64 Aliases: DFNA64 autosomal dominant deafness 64	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:13316	exocrine pancreatic insufficiency Aliases: EPI	ATP6AP1 CEL CTNS HPGDS HSD17B6 OGG1	1056 1497 27306 4968 537 8630	Homo sapiens (human)
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	ACE ALPL B4GALNT2 CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 124872 1605 1636 2218 249 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)
DOID:1252	trichuriasis Aliases: Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection	ACACA	31	Homo sapiens (human)
DOID:5702	pleomorphic liposarcoma	CALR CD38 CPM ENPP2 FASN GPNMB KL NANS PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PSMD10 PTEN SDC1 SMUG1 STS	10457 1368 142 2194 23583 412 5168 5290 5291 5293 5294 54187 57104 5716 5728 6382 80339 811 9365 952	Homo sapiens (human)
DOID:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0050474	Netherton syndrome	ACE GBA1 ICAM1 PTGS2	1636 2629 3383 5743	Homo sapiens (human)
DOID:3095	germ cell and embryonal cancer	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 CD44 CLEC10A CYP19A1 DHDH GFRA1 GOLPH3 GPC3 HPGDS IDH1 IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TDG TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2674 2719 27294 27306 3417 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 6996 8277 8644 9388 960	Homo sapiens (human)
DOID:10986	discitis	SMUG1	23583	Homo sapiens (human)
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN PLCH1 POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23007 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	AKR1B10 ENO2 PLA2G1B PLA2G6 PLB1	151056 2026 5319 57016 8398	Homo sapiens (human)
DOID:3093	nervous system cancer Aliases: malignant neoplasm of nervous system neoplasm of nervous system nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system	ENO2 IDH1 L2HGDH MUTYH NEU1 PTEN	2026 3417 4595 4758 5728 79944	Homo sapiens (human)
DOID:9080	macroglobulinemia Aliases: primary macroglobulinemia	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:13250	diarrhea	ABO ACADM ACAT1 ACOT7 ACOT8 ACSF3 AGA AKR1D1 ALDOB ALG3 ALG8 APRT CD14 CD248 CD55 CEACAM5 CHGA CHPT1 CNTN3 COMT CPT1A CRYL1 CYP11B2 CYP1A2 CYP27A1 CYP2C19 CYP2C9 CYP3A4 CYP7A1 CYP7B1 DGAT1 DHDDS FBP1 FUT1 FUT2 GALT GLA GLB1 GNS GUSB H6PD HADH HGSNAT HMGCL HMGCS2 HSD3B7 IDS IL18R1 IL1RL1 KLB LCT LGALS3 LIPA LYZ MBL2 MLYCD MPI MTM1 NAGLU NCAM1 PIGT PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PRKAA2 PRNP PTGES3 PTGS2 RGN SDCBP2 SGSH SI SLC17A5 SLC26A2 SLC35A2 SLC5A1 SPTLC2 SRGN ST8SIA2 ST8SIA4 SULT1E1 TM7SF2 TPI1 TREH TYMP UGDH UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS	10005 10195 1048 10728 1113 11181 11332 1312 1374 138050 152831 1544 1557 1559 1576 1581 1585 1593 1604 175 1836 1890 197322 2203 229 23417 2523 2524 2592 26503 27111 2717 2720 2799 28 2990 3033 3155 3158 34 3423 353 38 3938 3958 3988 4069 4153 4351 4534 4669 4684 5067 51084 51604 5290 5291 5293 5294 5373 54575 54576 54577 54578 54600 54657 54658 5552 5563 5621 56994 57124 5743 6448 6476 6523 6718 6783 7108 7167 7355 7358 7364 7372 7903 79053 79947 80270 8128 8694 8809 9104 9173 929 9420 9517 9563	Homo sapiens (human)
DOID:8956	cowpox Aliases: yaba	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:9955	hypoplastic left heart syndrome	ACE ACSS2 B3GLCT MGAT4A PKD1L2	11320 114780 145173 1636 55902	Homo sapiens (human)
DOID:10939	antisocial personality disorder Aliases: Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality	ACE ADH1B ALDH2 CAT COMT CYP2E1 EXT1 GAD1 IMPA1	125 1312 1571 1636 2131 217 2571 3612 847	Homo sapiens (human)

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