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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 **3826 - 3850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:8466	retinal degeneration Aliases: degeneration of retina	Cs Pdha1 Pdha2	12974 18597 18598	Mus musculus (house mouse)
DOID:0050571	congenital disorder of glycosylation type II	gly-4	180302	Caenorhabditis elegans
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	Kcnq1	84020	Rattus norvegicus (Norway rat)
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	EFNA5 FH GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2271 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:0060075	estrogen-receptor positive breast cancer	Pik3ca	170911	Rattus norvegicus (Norway rat)
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	ABO CALR	28 811	Homo sapiens (human)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	b3glcta b3glctb	564156 799443	Danio rerio (zebrafish)
DOID:8505	dermatitis herpetiformis Aliases: Dermatosis herpetiformis Duhring's disease	AGA ICAM1 SOAT1 TNF	175 3383 6646 7124	Homo sapiens (human)
DOID:0080508	Cornelia de Lange syndrome 4 Aliases: CDLS4 Cornelia De Lange syndrome 4 with or without midline brain defects	EXT1	2131	Homo sapiens (human)
DOID:8864	acute monocytic leukemia Aliases: acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology	ABO ACE ACHE ACOT7 ASAH1 BST1 CALR CD33 CD38 CD44 CD74 CEL CLEC12A CYP2C19 CYP3A4 CYP7A1 DLD EBP FCGR3B FUT4 GLUL HMMR HPGDS ICAM1 IDH1 IDH2 IL1RAP INPP4B INPP5D KLRK1 LGALS3 MACROD1 MBD4 NCAM1 NT5E PAFAH1B1 PARP9 PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G4A PLCG1 PRKAA2 PTGES3 SIRT6 SLC27A5 SOAT1 TIGAR VCAM1	1056 10682 10728 10998 11332 1557 1576 1581 160364 1636 1738 2215 22914 23556 2526 27306 2752 28 28992 3161 3383 3417 3418 3556 3635 3958 427 43 4684 4907 5048 51548 5290 5291 5293 5294 5310 5321 5335 5563 57103 6646 683 7412 811 83666 8821 8930 945 952 960 972	Homo sapiens (human)
DOID:0050753	cerebellar ataxia	ACER3 ACHE ARSA ARSG CACNA2D2 CAT CLN5 CYP7B1 DLD ELOVL4 ELOVL5 ENO2 GAA GAD1 GAD2 GALC GALT GBA2 GLB1 HSD17B4 L2HGDH MAG OGG1 PARP1 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PMM2 PNPLA6 PNPLA7 PPT2 PRNP SRD5A3	10908 1203 142 1738 2026 22901 2548 2571 2572 2581 2592 2720 3295 375775 4099 410 43 4968 5130 5160 5290 5291 5293 5294 5373 55331 5621 57704 60481 6785 79644 79944 8398 847 9254 9374 9420	Homo sapiens (human)
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	dally	39013	Drosophila melanogaster (fruit fly)
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3 Aliases: MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3	Pomgnt1	362567	Rattus norvegicus (Norway rat)
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	Dolk	36856	Drosophila melanogaster (fruit fly)
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	ABAT ACACA ACACB ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 B3GLCT BST1 CACNA2D1 CALR CAT CD14 CD38 CDH13 CHAT CHI3L1 CHPF CHPT1 CHST9 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 CYP7B1 DAG1 DEGS1 DGKB DGKG DHDDS DLD DPY19L3 EDEM1 ELOVL5 ENO2 EPHX2 EPM2A FADS1 FADS2 FDPS FIG4 FUT3 GAD1 GAD2 GALC GBA1 GLA GLB1 GLO1 GLT8D1 GLUL GOLPH3 GPI GPX1 GPX6 HACD3 HPGDS HPSE HS6ST1 HSD11B1 HSD3B2 HTR2A ICAM1 IDS IDUA IL1R1 IMPA2 INPP5K INPPL1 KL L1CAM LARGE1 LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDH2 ME1 MGAM MGAT4B MPG MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP15 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PLCG1 PLPP5 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELE SELP SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST6GALNAC2 ST8SIA4 STT3A SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG UPP2 VCAM1 XYLT2	1012 10159 10327 10610 10855 10858 10908 1103 1109 1116 11253 11282 11332 116285 125 126 1298 1312 1374 142 1431 145173 1463 1464 147991 148789 151056 151531 1544 1555 1557 1559 1571 1576 1586 1588 1589 1593 159371 1605 1607 1608 1636 1646 165631 166929 1738 18 2026 2053 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2525 2571 2572 257202 2581 26253 2629 26503 266727 27036 27087 2717 2720 27306 27349 2739 275 2752 276 277 278 2821 283871 2876 2923 307 31 32 3284 3290 3340 3356 3383 340075 3423 3425 353 3554 3613 3636 3703 3897 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5313 5319 5320 5321 5332 5335 53942 54187 54625 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 60481 6319 6392 6401 6403 64083 64132 6448 6476 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 83539 8398 84513 847 8560 8658 8803 8972 9104 9197 9215 929 9348 9365 9394 9415 9420 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:0060283	peeling skin syndrome Aliases: deciduous skin familial continuous skin peeling syndrome keratosis exfoliativa congenita peeling skin disease	BST2 CHST8 GPI KLRB1	2821 3820 64377 684	Homo sapiens (human)
DOID:4988	alcoholic pancreatitis	Ugt1a7c Ugt1a8	154516 301595	Rattus norvegicus (Norway rat)
DOID:2683	adenofibroma	PIK3CA	5290	Homo sapiens (human)
DOID:543	dystonia Aliases: dystonic disease	ACER3 ACHE ACOX1 ACSF3 ADH1C AGA ALDH5A1 ALDH6A1 ARSA ARSG ATP6V1A B3GALNT2 B4GALNT1 COMT CYB5R3 CYP27A1 CYP2U1 DBT DEGS1 DHDDS DLAT DLD DPEP1 ECHS1 GAD1 GBA1 GCDH GLB1 GM2A GPI GPX1 HEXD HIBCH HPRT1 INPP5K L2HGDH LMAN2L MAN1B1 MBOAT7 MDH2 MECR MMUT MYORG NDST1 OGA PAFAH1B1 PCCA PCCB PDHA1 PDHX PGAP1 PIGC PIGP PIGQ PIK3CA PLA2G6 PSAP PTEN RENBP SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1 TECR TPI1 TUSC3	10724 11253 113612 126 1312 148789 1593 1629 1727 1737 1738 175 1800 1892 197322 22901 23583 2571 2583 26275 2629 2639 2720 2760 2821 284004 2876 3251 3340 410 4191 43 4329 4594 5048 5095 5096 51 51102 51227 5160 51763 523 5279 5290 55331 5660 5728 57462 5973 6342 6389 6392 64116 6487 7167 79143 7915 7991 79944 79947 80055 8050 81562 8398 8560 8803 8867 8869 9091 9524	Homo sapiens (human)
DOID:0070460	hereditary spastic paraplegia 90B Aliases: SPG90B autosomal recessive spastic paraplegia 90B	SPTSSA	171546	Homo sapiens (human)
DOID:12680	pseudobulbar palsy Aliases: pseudobulbar paralysis	B4GALNT1 CYP27A1	1593 2583	Homo sapiens (human)
DOID:3302	chordoma Aliases: notochordoma	ACAN CBR1 CSPG4 FCGR3B IDH1 LGALS9 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SIGLEC7	142 1464 176 2215 27036 3417 3965 5290 5291 5293 5294 5728 873	Homo sapiens (human)
DOID:11506	suppurative otitis media Aliases: Otitis media with effusion - purulent Purulent otitis media	Tl	43222	Drosophila melanogaster (fruit fly)

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