GlyCosmos Portal

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

Displaying entries **1751 - 1775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110550	autosomal dominant nonsyndromic deafness 20 Aliases: DFNA20 DFNA26 autosomal dominant deafness 20	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:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	GLK1	850317	Saccharomyces cerevisiae S288C
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ugt1a1 ugt1a6 xylt1	100135191 100145490 100489505	Xenopus tropicalis (tropical clawed frog)
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADH1B CD74 COL9A2 COMT DGCR2 GAS1 GPC6 GSK3B ICAM1 IDH1 IDH2 IL18RAP LDHA LGALS3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIRT2 SIRT6 SRGN SULF1 TIGAR XYLT1	10082 125 1298 1312 176 22933 23213 2619 283871 2932 3383 3417 3418 3939 3958 51548 5290 5291 5293 5294 5552 57103 5728 5743 64131 8807 972 9993	Homo sapiens (human)
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:450	myotonic disease	ALPP ATRNL1 CYP2B6 HSPG2 IDS MRC1 MTM1 PGD PLCB1 PRKAA2 PRNP SLC35G1 ST8SIA4 UGT8	1555 159371 23236 250 26033 3339 3423 4360 4534 5226 5563 5621 7368 7903	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	AGA ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG6 ALG8 ALG9 ALPI ALPP APRT ATP6AP1 ATP6AP2 ATP6V0A2 B4GALT1 CCDC115 COG2 COG5 COG6 COG7 COG8 DAG1 DCN DDOST DLD DPAGT1 FCSK FUT8 GOLPH3 GPI MAN1A1 MAN1B1 MGAM MGAT2 MOGS MPDU1 MPI PGAP1 PGAP3 PGM1 PGM3 PMM2 POFUT2 RFT1 RXYLT1 SI SLC35A1 SLC35A2 SLC35A3 SLC39A8 SRD5A3 ST3GAL3 STT3A STT3B TMEM165 TUSC3	10159 10195 10329 10466 10559 11253 1605 1634 1650 1738 175 1798 197258 201595 22796 23275 23443 23545 248 250 2530 2683 2821 29929 353 3703 4121 4247 4351 440138 5236 5238 537 5373 55858 56052 57511 64083 64116 644974 6476 6487 7355 7841 79053 79087 79644 79796 79868 7991 80055 84317 84342 85365 8972 91869 91949 93210 9526	Homo sapiens (human)
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	Otogl	628870	Mus musculus (house mouse)
DOID:0060181	ischemic colitis	PC PTGS2 SMUG1	23583 5091 5743	Homo sapiens (human)
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	Man2a1	25478	Rattus norvegicus (Norway rat)
DOID:397	restrictive cardiomyopathy Aliases: Cardiomyopathy, constrictive primary restrictive cardiomyopathy	ACE ENPP1 PIGT SCD5 SCD XYLT1 XYLT2	1636 51604 5167 6319 64131 64132 79966	Homo sapiens (human)
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	st3gal5	100329191	Xenopus tropicalis (tropical clawed frog)
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	Calr	41166	Drosophila melanogaster (fruit fly)
DOID:0110772	hereditary spastic paraplegia 19 Aliases: SPG19 autosomal dominant spastic paraplegia 19 autosomal dominant spastic paraplegia type 19	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:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	IDP1 IDP2 IDP3 KAR2	850871 851493 853418 855723	Saccharomyces cerevisiae S288C
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	Igf2 Pmm1 Pmm2	16002 29858 54128	Mus musculus (house mouse)
DOID:0060417	3p deletion syndrome Aliases: chromosome 3pter-P25 deletion syndrome distal monosomy 3p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0002116	pterygium Aliases: surfer's eye	Ogg1 Tp53	24842 81528	Rattus norvegicus (Norway rat)
DOID:0080199	colorectal carcinoma	Axn Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6	31926 34978 34979 34981 36868 37104 43565	Drosophila melanogaster (fruit fly)
DOID:0050474	Netherton syndrome	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	IDS	3423	Homo sapiens (human)
DOID:4440	seminoma Aliases: Seminoma, Pure	Kcnq1 Pcna Tymp	16535 18538 72962	Mus musculus (house mouse)
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	CD1D FUT1 HPGDS HPRT1 PLCG1	2523 27306 3251 5335 912	Homo sapiens (human)
DOID:9351	diabetes mellitus Aliases: diabetes	ins ogt.1	30262 337685	Danio rerio (zebrafish)
DOID:7166	thyroiditis	CALR ICAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELL	3383 5290 5291 5293 5294 5728 6402 811	Homo sapiens (human)

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