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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 **2976 - 3000** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
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:0110718	Warburg micro syndrome 3 Aliases: Micro Syndrome 3 WARBM3	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:0110719	Warburg micro syndrome 4 Aliases: Micro Syndrome 4 WARBM4	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:0060232	branchiootic syndrome Aliases: BO syndrome BOR branchiootic dysplasia	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:0060247	Smith-McCort dysplasia	AKR1C4 KL PTEN VCAN	1109 1462 5728 9365	Homo sapiens (human)
DOID:4258	Weissenbacher-Zweymuller syndrome Aliases: Piere-Robin syndrome Pierre Robin Malformation	AKR1C4 ALDH2 CALR CD38 CD55 CHPT1 CNTN3 COG1 CYP2B6 DGCR2 DHDDS FREM1 G6PD GAS1 GYS2 IDUA LGALS1 LSS NT5E PARP1 SLC26A2	1109 142 1555 158326 1604 1836 217 2539 2619 2998 3425 3956 4047 4907 5067 56994 79947 811 9382 952 9993	Homo sapiens (human)
DOID:0050801	androgenic alopecia Aliases: alopecia androgenetica, male pattern baldness androgenetic alopecia	AGA AGXT AKR1C4 CYP17A1 CYP27B1 HPGDS PARP1 PRNP PTGDS SRD5A1 SRD5A2 STS VCAN	1109 142 1462 1586 1594 175 189 27306 412 5621 5730 6715 6716	Homo sapiens (human)
DOID:1229	paranoid schizophrenia Aliases: Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state	ABO AKR1C4 ALDH3B1 CALR COMT CYP1A2 CYP2B6 DGCR2 HSD3B2 IMPA1 MANEA PLA2G6 SIGLEC7	1109 1312 1544 1555 221 27036 28 3284 3612 79694 811 8398 9993	Homo sapiens (human)
DOID:778	delusional disorder	ABO AKR1C4 ALDH3B1 CALR CAT COMT CYP1A2 CYP2B6 DGCR2 GAD1 GAD2 HSD3B2 IMPA1 MANEA PLA2G6 SIGLEC7	1109 1312 1544 1555 221 2571 2572 27036 28 3284 3612 79694 811 8398 847 9993	Homo sapiens (human)
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E PLCD3 SLC26A2	1109 113026 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13 Aliases: MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13	B4GAT1	11041	Homo sapiens (human)
DOID:0060668	anencephaly	ABO B4GAT1 COMT EFNA5	11041 1312 1946 28	Homo sapiens (human)
DOID:4160	differentiating neuroblastoma	CHAT	1103	Homo sapiens (human)
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)
DOID:0110672	congenital myasthenic syndrome 21 Aliases: CMS21 congenital myasthenic syndrome 21, presynaptic	CHAT	1103	Homo sapiens (human)
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	CHAT PMM2	1103 5373	Homo sapiens (human)
DOID:9786	bulbar polio Aliases: bulbar poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)
DOID:4953	poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)
DOID:11914	gastroparesis Aliases: Gastroparalysis Gastroparesis syndrome gastric atonia	B3GAT1 CHAT MRC1 STS	1103 27087 412 4360	Homo sapiens (human)
DOID:12043	kernicterus due to isoimmunization	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:2382	kernicterus Aliases: bilirubin encephalopathy	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	ADIPOQ ALDH5A1 ALOX15 AMACR ARSD CAT CHAT ENO2 EPM2A FBP1 FBP2 FOLR1 FOLR2 HAGH HPRT1 L1CAM NTNG1 PAFAH1B1 SIRT2 ST3GAL5	1103 2026 2203 22854 22933 2348 2350 23600 246 3029 3251 3897 414 5048 7915 7957 847 8789 8869 9370	Homo sapiens (human)
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	ACHE CEACAM6 CHAT DPAGT1 GMPPB ICAM1 PTEN	1103 1798 29925 3383 43 4680 5728	Homo sapiens (human)
DOID:3635	congenital myasthenic syndrome	ACHE AGRN ALG14 ALG2 B3GAT1 CHAT DPAGT1 GFPT1 GMPPB SEMA7A SLC25A1	1103 1798 199857 2673 27087 29925 375790 43 6576 8482 85365	Homo sapiens (human)
DOID:10293	monocular esotropia	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)

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