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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6251 - 6275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0070516	Mitchell syndrome	ACOX1	51	Homo sapiens (human)
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	ACOX1 ATP6V1A CHSY1 DHDDS MBL2 PIGL PIK3C2A PLD2 SYNJ1 XYLT1	22856 4153 51 523 5286 5338 64131 79947 8867 9487	Homo sapiens (human)
DOID:13714	anodontia Aliases: Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth	ACOX1 ATP6V1A CHSY1 DHDDS MBL2 PIGL PIK3C2A PLD2 SYNJ1 XYLT1	22856 4153 51 523 5286 5338 64131 79947 8867 9487	Homo sapiens (human)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ACOX1 ARSD GGT1 GPD2 SLC25A12 SLC25A13	10165 2678 2820 414 51 8604	Homo sapiens (human)
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACOX1 AMACR CAT DHRS11 HADH HSD17B4 HSD17B7	23600 3033 3295 51 51478 79154 847	Homo sapiens (human)
DOID:92	speech disorder	ACOX1 AGA ALDH7A1 ASAH1 B3GALNT2 CALR CNTN4 CPT1A CYP27A1 DDOST FH FKRP FKTN GBA1 GCDH GMPPB GPC3 HK1 LARGE1 MANBA NEU1 PAFAH1B1 PNPLA6 POMGNT1 POMT1 POMT2 PTEN SMC3 STS TBXAS1	10585 10908 1374 148789 152330 1593 1650 175 2218 2271 2629 2639 2719 29925 29954 3098 412 4126 427 4758 501 5048 51 55624 5728 6916 79147 811 9126 9215	Homo sapiens (human)
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	ACOX1 ACSL4 AGK ALDH3A2 ATP6V0A2 B3GALNT2 B3GALT6 B3GLCT CHST14 COL9A2 DAG1 DCN ENPP1 FKRP FKTN FMOD GLUL GMPPB GNPTG GPAA1 GPD2 HADHA HAS2 HS6ST2 HSPG2 LARGE1 LPIN2 NTM NYX PCYT1A PIK3CA PIK3CG PLOD3 PMM2 POMGNT1 POMK POMT1 POMT2 PSMD10 PTEN PXYLP1 RPE SDHC SDHD SLC2A10 SMC3 TMTC3 VCAN XYLT1 XYLT2	10585 113189 126792 1298 145173 1462 148789 160418 1605 1634 2182 2218 224 2331 23545 2752 2820 29925 29954 3030 3037 3339 50863 51 5130 5167 5290 5294 5373 55624 55750 5716 5728 60506 6120 6391 6392 64131 64132 79147 81031 84197 84572 8733 8985 90161 9126 9215 92370 9663	Homo sapiens (human)
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ACOX1 ACSL3 AGA ALG13 ALG9 ALOX5 ALPL ALPP ANXA7 ARSA ATRNL1 B3GAT3 B3GLCT CHI3L1 CHST14 CHST3 CLC CNTN1 COLEC10 COLEC11 COMT CPO CYP11B1 CYP24A1 CYP2B6 DGCR2 DSE ENPP1 EXT2 FKTN FREM1 FUCA1 GAD2 GNPTAB GPC1 GPC3 GPC6 HPGDS HSD11B1 HSD17B4 IDS IL1RL1 IL1RL2 L1CAM LYZ MASP1 MGAT2 MPDU1 MRC1 NAAA NANS NGLY1 NT5E PDHX PGAP2 PGAP3 PIGL PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PNPLA6 PTEN PTGDS PTGS2 SDC1 SFTPA1 SFTPA2 SFTPD SLC2A10 SLC35A2 SLC39A8 SMC3 SRD5A3 SULT1E1 VCAM1	10082 10584 10908 1116 113189 1178 1272 130749 1312 145173 1555 158326 1584 1591 175 2132 2181 2218 240 249 250 2517 2572 26033 26229 27163 2719 27306 27315 2817 284098 29940 310 3290 3295 3423 3897 4069 410 4247 4360 4907 51 51604 5167 5290 5291 5293 5294 5320 54187 55650 55768 5648 5728 5730 5743 6382 64116 6441 653509 6783 729238 7355 7412 78989 79158 79644 79796 79868 8050 81031 8399 84720 84992 8808 9126 9173 93210 9469 9487 9526 9993	Homo sapiens (human)
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:0070516	Mitchell syndrome	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	37028	Drosophila melanogaster (fruit fly)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	ACOX1 Hex-t1 Hex-t2	117364 37028 43191	Drosophila melanogaster (fruit fly)
DOID:9970	obesity	ACOX1 Cnx99A Gapdh1 Gapdh2 Hex-t1 Hex-t2 INPP5E N Sdc Tl Zw	117364 31293 32545 32974 35728 37028 37447 39404 43191 43222 44643	Drosophila melanogaster (fruit fly)
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	ACOT8	10005	Homo sapiens (human)
DOID:0050336	hypophosphatemia	ACOT8 ALDOB ALG13 CTNS CYP27B1 CYP2R1 ENPP1 KL NAMPT OCRL SLC2A2 SUCLG1	10005 10135 120227 1497 1594 229 4952 5167 6514 79868 8802 9365	Homo sapiens (human)
DOID:9409	diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:13461	urethral intrinsic sphincter deficiency Aliases: Intrinsic (urethral) sphincter deficiency [ISD]	ACOT7	11332	Homo sapiens (human)
DOID:1116	pertussis Aliases: WC - Whooping cough bordetella infection whooping cough	ACOT7 PIK3CG UMOD	11332 5294 7369	Homo sapiens (human)
DOID:999	hypereosinophilic syndrome Aliases: Eosinophilic leukocytosis eosinophilia	ACOT7 CD1D CEL CLEC10A CYP2C19 ETNK1 EXTL3 HPGDS HS2ST1 HSPG2 ICAM1 IL18R1 IL1RL1 LGALS9 LPCAT1 MBL2 NDST1 PARP1 PARP9 PGM3 PLA2G5 PTEN PTGDS PTGS2 SDC2 SELL SFTPA2 SFTPD SIGLEC8 SLC27A5 TNFRSF10C VCAM1	10462 1056 10998 11332 142 1557 2137 27181 27306 3339 3340 3383 3965 4153 5238 5322 55500 5728 5730 5743 6383 6402 6441 729238 7412 79888 83666 8794 8809 912 9173 9653	Homo sapiens (human)
DOID:11996	spermatic cord torsion Aliases: Torsion of testicle Torsion of testis testicular Torsion	ACOT7 B4GALT7 GPX3 HSPG2 SMUG1	11285 11332 23583 2878 3339	Homo sapiens (human)
DOID:8670	eating disorder	ACOT7 ARSD COMT DBT GPCPD1 SIGLEC7	11332 1312 1629 27036 414 56261	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:12384	dysentery Aliases: Infectious diarrhea	ACOT7 APRT IL18R1 LCT LYZ SULT1E1	11332 353 3938 4069 6783 8809	Homo sapiens (human)
DOID:12241	beta thalassemia	ACOT7 ANXA5 CAT CD177 CD38 CD55 CHIT1 CHPT1 CPT1A CPT2 CRYL1 CYP2E1 CYP3A4 FUT1 FUT4 G6PD H6PD HACD1 HJV HPGDS KL LPCAT3 OGA PC PGD PRKCSH SCD SELP SLC35A2 TNF UGDH UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS	10162 10724 1118 11332 1374 1376 148738 1571 1576 1604 2523 2526 2539 27306 308 5091 51084 5226 54575 54576 54577 54578 54579 54600 54657 54658 54659 5589 56886 56994 57126 6319 6403 7124 7355 7358 7372 847 9200 9365 952 9563	Homo sapiens (human)

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