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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 **6901 - 6925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1 TLR1 TLR6	10333 1557 1595 28 30835 3956 4153 4360 51267 523 64581 7096 847 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8469	influenza Aliases: Influenza with other manifestations flu influenza with non-respiratory manifestation	ABO AGA AKR1C4 APRT ARSF B3GAT1 B3GNT3 BST2 CD14 CD177 CD248 CD38 CD44 CD48 CD55 CEL CLEC10A CLEC7A CLEC9A CPT2 DDOST DLAT DPEP1 ENO1 FCN2 FUT2 GAD1 GAL3ST1 GALNS GAPDH GGT1 GLA GLDC GOLPH3 GPI HACD1 ICAM1 IL18R1 ISYNA1 KLRB1 KLRD1 LGALS9 MBL2 MMUT MPPE1 MRC1 NAGA NEU1 NPL PARP12 PARP9 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 SDC1 SELL SFTPD SIGLEC1 SLC27A5 SLC35A1 SPHK2 ST3GAL3 ST6GAL1 TECR UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10331 10462 10559 1056 10998 1109 1376 1604 1650 1737 175 1800 2023 2220 2524 2571 2588 2597 2678 27087 2717 2731 28 2821 283420 2923 3383 353 3820 3824 3965 4153 416 4360 4594 4668 4758 51477 5290 5291 5293 5294 5310 5315 54575 54576 54577 54578 54579 54600 54657 54659 5563 5621 5652 56848 57124 57126 5716 5728 5742 5743 6382 6402 64083 6441 64581 64761 6480 6487 65258 6614 684 80896 83666 8809 9200 929 9514 952 9524 960 962	Homo sapiens (human)	DisGeNET
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	RXYLT1	10329	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 5048 50814 51227 523 55624 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly Aliases: SRTD14	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060277	pontocerebellar hypoplasia type 8	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060278	pontocerebellar hypoplasia type 9	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4626	hydranencephaly	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060276	pontocerebellar hypoplasia type 7	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060857	septooptic dysplasia Aliases: De Morsier syndrome SOD septo-optic dysplasia	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD44 CD55 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HS6ST1 LARGE1 NSDHL NT5E PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SEMA7A STS TMTC3	10329 10585 11041 148789 1604 160418 1605 1718 1743 2218 23545 29954 412 4907 5048 50814 51227 523 55624 729920 79147 84197 8482 84892 9091 9215 9394 960 9896	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060469	Miller-Dieker lissencephaly syndrome Aliases: MDS Miller-Dieker syndrome	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CD33 CD38 CRPPA CYP2B6 DAG1 DHCR24 DLST FIG4 FKRP FKTN GAD2 HSPG2 LARGE1 NSDHL NT5M PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 1555 160418 1605 1718 1743 2218 23236 23545 23556 2572 29954 3339 412 5048 50814 51196 51227 523 5277 5335 55624 56953 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11541	recurrent corneal erosion Aliases: recurrent erosion of cornea recurrent erosion syndrome	ASAH1 B3GALNT2 B3GLCT B4GAT1 CHST6 CRPPA CTNS CTSA CYP1B1 DAG1 FKRP FKTN FUCA1 GLA GLB1 GUSB IDUA KDSR LARGE1 LCAT MYORG NEU1 NGLY1 OCRL PIGL PIGN POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SRD5A3 STS SUMF1	10329 10585 11041 145173 148789 1497 1545 1605 2218 23556 2517 2531 2717 2720 285362 2990 29954 3425 3931 412 4166 427 4758 4952 5476 55624 55768 57462 729920 79147 79644 84197 84892 9215 9487	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050559	Fukuyama congenital muscular dystrophy	B3GALNT2 B4GAT1 CD109 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 11041 135228 148789 1605 2218 29925 29954 55624 729920 79147 84197 84892 9215	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0050453	lissencephaly	ALPP ATP6V0A2 ATP6V1A ATRNL1 B3GALNT2 B4GAT1 CD33 CD38 COMT CRPPA CYP2B6 DAG1 DHCR24 DLD DLST FCN2 FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL OCRL PAFAH1B1 PIGA PIGN PIGP PIGQ PLCB1 PLCE1 PLCG1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SDC2 SLC17A5 STS TMTC3	10329 10585 11041 1312 148789 1555 160418 1605 1718 1738 1743 2218 2220 23236 23545 23556 250 26033 26503 29954 3339 412 4952 5048 50814 51196 51227 523 5277 5335 55624 5728 6383 729920 79147 84197 84892 9091 9215 945 952 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	ACACA ACHE ALDH2 B3GALNT2 B4GAT1 CD38 CHKB CNTN1 CRPPA DAG1 FKRP FKTN GBE1 GMPPB HACD1 HK1 INPP5K LARGE1 MTM1 MTMR14 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAA2 RXYLT1	10329 10585 11041 1120 1272 148789 1605 217 2218 2632 29925 29954 3098 31 43 4534 51763 55624 5563 64419 729920 79147 84197 84892 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)	DisGeNET
DOID:0080094	myofibrillar myopathy 3 Aliases: LGMD 1A autosomal dominant limb-girdle muscular dystrophy type 1A myotilinopathy spheroid body myopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)	DisGeNET

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