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 **2101 - 2125** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0070129	autosomal recessive cutis laxa type IID Aliases: ARCL2D	ATP6AP1 ATP6V0A2 ATP6V1A 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 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:3144	cutis laxa Aliases: loose skin	ATP6AP1 ATP6V0A2 ATP6V1A 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 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070141	autosomal recessive cutis laxa type II classic type Aliases: ARCL2, Debre type ARCL2, classic type	ATP6AP1 ATP6V0A2 ATP6V1A 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 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070384	developmental and epileptic encephalopathy 98 Aliases: DEE98 early infantile epileptic encephalopathy 98	ATP1A2	477	Homo sapiens (human)
DOID:14264	benign neonatal seizures Aliases: benign familial neonatal seizures benign neonatal convulsions	ATP1A2 GALE	2582 477	Homo sapiens (human)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	Homo sapiens (human)
DOID:0060178	familial hemiplegic migraine	ATP1A2 DPEP1 PMM2 PRKCSH	1800 477 5373 5589	Homo sapiens (human)
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4	468	Homo sapiens (human)
DOID:0060127	gamma heavy chain disease Aliases: Franklin's disease	ASAH2	56624	Homo sapiens (human)
DOID:0060125	heavy chain disease	ASAH2 SDC1	56624 6382	Homo sapiens (human)
DOID:0080222	pseudohypoparathyroidism type IB	ASAH1	427	Homo sapiens (human)
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)
DOID:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	ASAH1 PSAP	427 5660	Homo sapiens (human)
DOID:4329	Erdheim-Chester disease	ASAH1 PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	23583 427 5290 5291 5293 5294	Homo sapiens (human)
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1 GALC PSAP	2581 427 5660	Homo sapiens (human)
DOID:1752	ocular melanoma Aliases: eye melanoma intraocular melanoma melanoma of eye	ASAH1 CD177 CYP24A1 CYP27B1 PNPLA2 SDHD	1591 1594 427 57104 57126 6392	Homo sapiens (human)
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	ASAH1 CAT CEL CHIT1 CYP27A1 FADS2 GALC GBA1 GDPD3 LIPA LIPF LPL LSS NCAM1 SCD SFTPD SLC2A3 SOAT2	1056 1118 1593 2581 2629 3988 4023 4047 427 4684 6319 6441 6515 79153 8435 847 8513 9415	Homo sapiens (human)
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)
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)
DOID:3113	papillary carcinoma	ASAH1 B3GAT1 CD44 CYP1A1 ENO2 FUT4 FUT8 GPC3 GPLD1 HPSE HSPG2 IDH2 LGALS1 LGALS3 NCAM1 NEU1 PIGU PIK3CA PTEN PTGS1 PTGS2 SDC2 SLC2A3 SMUG1 VTCN1	10855 128869 1543 2026 23583 2526 2530 27087 2719 2822 3339 3418 3956 3958 427 4684 4758 5290 5728 5742 5743 6383 6515 79679 960	Homo sapiens (human)
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)
DOID:6195	conjunctivitis	ART4 CD14 IMPA1 LGALS1 MBL2 PLD3	23646 3612 3956 4153 420 929	Homo sapiens (human)
DOID:5614	eye disease	ARSI B3GLCT CA4 CACNA2D4 CDS1 CDS2 CLN5 COL9A2 CYP1B1 CYP27A1 CYP2C19 CYP2C9 DGKG ELOVL4 ENO1 ENO2 FREM1 ICAM1 IDH3B LDHA NYX PARP1 PIK3CD PLA2G5 PNPLA2 PPT1 RPE SCD SRD5A3 SULT1E1 TLR2 TLR4 TNF VCAN	1040 1203 1298 142 145173 1462 1545 1557 1559 158326 1593 1608 2023 2026 3383 340075 3420 3939 5293 5322 5538 57104 60506 6120 6319 6783 6785 7097 7099 7124 762 79644 8760 93589	Homo sapiens (human)
DOID:1056	oculocerebrorenal syndrome Aliases: Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe	ARSH G6PD HPRT1 INPP5A INPP5D INPP5E INPP5K MTM1 NAGLU OCRL PAFAH1B1 PTEN	2539 3251 347527 3632 3635 4534 4669 4952 5048 51763 56623 5728	Homo sapiens (human)
DOID:0110841	Usher syndrome type 3A Aliases: USH3A Usher syndrome type IIIA	ARSG	22901	Homo sapiens (human)

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