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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 **1851 - 1875** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:3490	Noonan syndrome Aliases: Turner's phenotype, karyotype normal	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0060588	Noonan syndrome 10 Aliases: NS10	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0060608	microcephalic osteodysplastic primordial dwarfism type I Aliases: Taybi-Linder syndrome brachymelic primordial dwarfism cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia osteodysplastic primordial dwarfism type I	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:6420	pulmonary valve stenosis	ARSD B3GLCT B4GALT7 CHST3 CYP24A1 ENPP1 FKTN G6PC3 GALNT1 PIGQ PMM2 SMC3	11285 145173 1591 2218 2589 414 5167 5373 9091 9126 92579 9469	Homo sapiens (human)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	B3GAT3 B4GALT7 CHST3	11285 26229 9469	Homo sapiens (human)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	B4GALT1 B4GALT7	11285 2683	Homo sapiens (human)
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)
DOID:9669	senile cataract	CAT CD14 EFNA5 G6PD GALK1 GPX1 HPGDS LSS OGG1 PARP1 PLCD3	113026 142 1946 2539 2584 27306 2876 4047 4968 847 929	Homo sapiens (human)
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE ACSS2 ASAH2 CD44 CHPT1 CHST14 CYP2C19 CYP2E1 DCN DHDDS DSEL ECI1 FREM1 FUT3 GPC3 GPI HTR2A ICAM1 IGF2 IGF2R LFNG NDST1 PGAP3 PIGN PIGW PLA2G15 PMM2 SDHA SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10 SMC3 TM7SF2 TNF VCAM1	113189 1557 1571 158326 1632 1634 1636 23556 23659 2525 2719 2821 284098 3340 3356 3383 3481 3482 3955 5373 55902 56624 56994 6389 6440 6441 653509 7108 7124 729238 7412 79947 81031 9126 92126 93210 960	Homo sapiens (human)
DOID:12642	hiatus hernia Aliases: Diaphragmatic - hiatus -hernia hiatal hernia	ACE ACSS2 CHPT1 CHST14 CYP2C19 DCN DHDDS DSEL ECI1 FREM1 FUT3 ICAM1 NDST1 PLA2G15 SFTPC SLC2A10 VCAM1	113189 1557 158326 1632 1634 1636 23659 2525 3340 3383 55902 56994 6440 7412 79947 81031 92126	Homo sapiens (human)
DOID:1673	pneumothorax	CHST14 PTGS1 PTGS2 SMUG1 TECR	113189 23583 5742 5743 9524	Homo sapiens (human)
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	CHST14	113189	Homo sapiens (human)
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)
DOID:3590	gestational trophoblastic neoplasm Aliases: gestational trophoblastic neoplasia hydatidiform mole molar pregnancy	ABO ACOT7 CD44 GGT1 HMMR HPSE2 LGALS1 MGAT4A MRC1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 VCAN	11320 11332 1462 23583 2678 28 3161 3956 4360 5236 5290 5291 5293 5294 5728 60495 960	Homo sapiens (human)
DOID:9955	hypoplastic left heart syndrome	ACE ACSS2 B3GLCT MGAT4A PKD1L2	11320 114780 145173 1636 55902	Homo sapiens (human)
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	ACACA ACE ACOT7 ACSL6 BCKDHB CD38 COMT CYP17A1 CYP19A1 CYP1A1 CYP2B6 CYP2C19 CYP7A1 GALT HACD1 HSD17B4 IGF2R KL LGALS1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN PTGES XPNPEP2	11332 1312 1543 1555 1557 1581 1586 1588 1636 23305 2592 31 3295 3482 3956 5290 5291 5293 5294 5321 5373 5728 594 7512 9200 9365 952 9536	Homo sapiens (human)
DOID:8670	eating disorder	ACOT7 ARSD COMT DBT GPCPD1 SIGLEC7	11332 1312 1629 27036 414 56261	Homo sapiens (human)
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	ACAN ACOT7 CHST3 COMT FADS1 FADS2 GLB1	11332 1312 176 2720 3992 9415 9469	Homo sapiens (human)
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	ACACA ACACB ACADVL ACOT7 ALOX15B ARSA B3GAT1 CD14 CD38 CD44 CTBS CYP11B1 CYP17A1 CYP19A1 DGKZ DHCR24 EOGT GAA GUSB HSD17B4 IGF2R MRC1 NAGA NAGLU PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SDHB SIRT6 SMUG1 SOAT1 SORD SPHK1 VCAN	11332 1462 1486 1584 1586 1588 1718 23583 247 2548 27087 285203 2990 31 32 3295 3482 37 410 4360 4668 4669 51548 5290 5291 5293 5294 5563 5728 5743 6390 6646 6652 8525 8877 929 9468 952 960	Homo sapiens (human)
DOID:5223	infertility	ABO ACOT7 BAAT CD14 CD44 CYP17A1 EFNA5 GBA2 H6PD HJV HSD17B1 HSD17B3 KL PLCB1 PLCZ1	11332 148738 1586 1946 23236 28 3292 3293 570 57704 89869 929 9365 9563 960	Homo sapiens (human)
DOID:12978	Plasmodium vivax malaria Aliases: Malaria by Plasmodium vivax Vivax Malaria	ABO ACOT7 CD55 CYP4F3 G6PD GPI HPGDS PGD PGM1	11332 1604 2539 27306 28 2821 4051 5226 5236	Homo sapiens (human)
DOID:724	female stress incontinence Aliases: Stress incontinence - female female urinary stress incontinence	ACOT7 ARSA CAT DCN FMOD GBA1 GPI	11332 1634 2331 2629 2821 410 847	Homo sapiens (human)
DOID:2320	obstructive lung disease Aliases: respiratory airway obstruction	ACOT7 ALPI ALPP CAT GLA LTC4S MBL2 SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10	11332 248 250 2717 4056 4153 6440 6441 653509 729238 81031 847	Homo sapiens (human)
DOID:0080482	peroxisome biogenesis disorder 7A Aliases: peroxisome biogenesis disorder 7A (Zellweger)	ACACA ACOT7 CAT GAA	11332 2548 31 847	Homo sapiens (human)

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