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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 **1726 - 1750** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:0110585	autosomal dominant nonsyndromic deafness 64 Aliases: DFNA64 autosomal dominant deafness 64	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:0110586	autosomal dominant nonsyndromic deafness 65 Aliases: DFNA65 autosomal dominant deafness 65	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:0110587	autosomal dominant nonsyndromic deafness 66 Aliases: DFNA66 autosomal dominant deafness 66	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:0110588	autosomal dominant nonsyndromic deafness 67 Aliases: DFNA67 autosomal dominant deafness 67	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:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	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:0110590	autosomal dominant nonsyndromic deafness 69 Aliases: DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness	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:0110591	autosomal dominant nonsyndromic deafness 7 Aliases: DFNA7 autosomal dominant deafness 7	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:0110592	autosomal dominant nonsyndromic deafness 70 Aliases: DFNA70 autosomal dominant deafness 70	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:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	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:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	Lrp5	16973	Mus musculus (house mouse)
DOID:0110938	autosomal dominant osteopetrosis 2 Aliases: Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2	ARSA CLC DEGS1 DHCR24 EXTL2 EXTL3 PTDSS1	1178 1718 2135 2137 410 8560 9791	Homo sapiens (human)
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	ACE ALG8 ALG9 APRT ARF4 B3GLCT CALR CD14 COMT CPT2 CYP4A11 DCN DHCR7 GANAB GLA GPC3 HAGH INPP5E KL LGALS3 LRP5 PGD PGP PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKAA2 PRKCSH PTGS1 PTGS2 SELE SEMA7A SMC3 SMUG1 SOAT1 UMOD XYLT2	114780 1312 1376 145173 1579 1634 1636 1717 23193 23556 23583 2717 2719 283871 3029 342372 353 378 3958 4041 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5563 5589 56623 5742 5743 6401 64132 6646 7369 79053 79796 811 8482 9126 929 9365	Homo sapiens (human)
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	Lrp5	16973	Mus musculus (house mouse)
DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1 Aliases: PHA1A autosomal dominant PHA 1	MRC1	4360	Homo sapiens (human)
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	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:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:0070192	autosomal recessive chronic granulomatous disease 1 Aliases: CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II	PMM2 SLC35A2	5373 7355	Homo sapiens (human)
DOID:0070194	autosomal recessive chronic granulomatous disease 3 Aliases: CDG3 autosomal recessive chronic granulomatous disease cytochrome b-positive type III autosomal recessive cytochrome b-positive CGD type III chronic granulomatous disease due to NCF4 deficiency	MGAT2	4247	Homo sapiens (human)
DOID:0060656	autosomal recessive congenital ichthyosis 1 Aliases: ARCI1	ACE ALDH3A2 ALOX12B AMY2B CERS3 COG7 DGAT1 EBP ELOVL4 GBA1 HSD17B6 LPIN2 MPDU1 PNPLA2 PNPLA6 SGPL1 STS SULT2B1	10682 10908 1636 204219 224 242 2629 280 412 57104 6785 6820 8630 8694 8879 91949 9526 9663	Homo sapiens (human)
DOID:0060719	autosomal recessive congenital ichthyosis 10 Aliases: ARCI10	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)

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