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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 **3551 - 3575** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060535	Warsaw breakage syndrome Aliases: WABS	PARP1	142	Homo sapiens (human)
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)
DOID:10322	berylliosis Aliases: beryllium poisoning	ACE	1636	Homo sapiens (human)
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	ALDH1A3 ALDH7A1 ALG2 ALG3 ATP6V1A B3GALNT2 B3GLCT B4GALT7 B4GAT1 CRPPA CYP1B1 DAG1 DHCR7 FKRP FKTN GAS1 GMPPA GMPPB INPP5E LARGE1 PAFAH1B1 PIGL PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRPS1 RXYLT1 SRD5A3	10195 10329 10585 10908 11041 11285 145173 148789 1545 1605 1717 220 2218 2619 29925 29926 29954 501 5048 523 55624 5631 56623 729920 79147 79644 84197 84892 85365 9215 9487	Homo sapiens (human)
DOID:3720	extramedullary plasmacytoma Aliases: extraosseous plasmacytoma plasmacytoma, extramedullary	CAT CD38 ICAM1 LPL NCAM1 PCYT1A PIGA PTEN SDC1 SMUG1 SOAT1	23583 3383 4023 4684 5130 5277 5728 6382 6646 847 952	Homo sapiens (human)
DOID:1523	colon lymphoma Aliases: Colonic Lymphoma	NCAM1	4684	Homo sapiens (human)
DOID:1100	ovarian disease	CYP19A1 KLB	152831 1588	Homo sapiens (human)
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	ALDH6A1 GCSH GLUL HMGCL PCCA PCCB	2653 2752 3155 4329 5095 5096	Homo sapiens (human)
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 ALOX12 AMACR ARSI CA4 CACNA2D4 CANX CD38 CD44 CD48 CD74 CNTN3 CNTN6 COG4 CTNS CYP19A1 DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GAL3ST1 GK GLO1 GMPPB GNPTG H6PD HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD11B1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LGALS1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PTEN RGMA RPE SDHA SDHB SDHD SFTPD SGSH SIGLEC7 SLC35A1 SMC3 SOAT1 SYNJ1 TMED3	10559 10585 10908 131 138050 1497 1588 1636 1892 2194 224 23423 23600 239 2539 25839 27036 2710 27255 2739 28 29925 29954 3030 3032 3033 3098 3099 3290 340075 3418 3419 3420 3612 3956 4190 4669 501 5067 51 5160 5290 5291 5293 5294 5373 55624 55768 5621 56963 57104 5728 60506 6120 6389 6390 6392 6441 6448 6646 6785 762 79071 79087 79147 79888 79947 80201 821 84572 8526 8630 8867 9126 9215 93589 9365 9514 952 9563 960 962 972	Homo sapiens (human)
DOID:14777	benign familial neonatal epilepsy Aliases: familial neonatal seizures	GALE	2582	Homo sapiens (human)
DOID:10017	multiple endocrine neoplasia type 1 Aliases: MEN type I Wermer syndrome Wermer's syndrome	ABO APRT CD109 CYP24A1 FUT4 GAPDH GFRA4 PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PTEN PYGM RENBP SDHA SDHB SDHC SDHD SMUG1 SORD SULT1E1	135228 1591 23583 2526 2597 28 353 5290 5291 5293 5294 5331 5728 5837 5973 6389 6390 6391 6392 64096 6652 6783	Homo sapiens (human)
DOID:0110168	Charcot-Marie-Tooth disease type 2Y Aliases: CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	CLC	1178	Homo sapiens (human)
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0060763	X-linked juvenile retinoschisis 1 Aliases: X-linked juvenile retinoschisis X-linked retinoschisis XLRS	PAFAH1B1 SLC5A1	5048 6523	Homo sapiens (human)
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	ALDH7A1 CYP2C19 GAPDH	1557 2597 501	Homo sapiens (human)
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)
DOID:0070094	oculocutaneous albinism type IA Aliases: OCA1A Oculocutaneous Albinism, Tyrosinase-Negative	CALR CANX NAGLU	4669 811 821	Homo sapiens (human)
DOID:0110553	autosomal dominant nonsyndromic deafness 23 Aliases: DFNA23 autosomal dominant deafness 23	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:12179	tinea corporis Aliases: Dermatophytosis of the trunk dermatophytosis of the body	SQLE	6713	Homo sapiens (human)
DOID:4252	Alexander disease Aliases: Alexander's disease	CD38 CHI3L1	1116 952	Homo sapiens (human)
DOID:8590	acute vascular insufficiency of intestine Aliases: acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency	PCYT1A	5130	Homo sapiens (human)
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	GPC3 PTEN	2719 5728	Homo sapiens (human)
DOID:0111063	hyperphosphatemic familial tumoral calcinosis Aliases: HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia	ALPL ANXA5 ENPP1 GALNT3 KL	249 2591 308 5167 9365	Homo sapiens (human)

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