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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 **4751 - 4775** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	Igf2	24483	Rattus norvegicus (Norway rat)
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	Igf2	16002	Mus musculus (house mouse)
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 IGF2 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 3481 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:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	B3GLCT CRPPA CYP1B1 FKRP FKTN LARGE1 POMT1 POMT2 PTGDS	10585 145173 1545 2218 29954 5730 729920 79147 9215	Homo sapiens (human)
DOID:14687	diastrophic dysplasia	ACE CHST3 COL9A2 HPGDS PAPSS2 PTEN SLC26A2	1298 1636 1836 27306 5728 9060 9469	Homo sapiens (human)
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	ACADSB DHCR7 FDFT1 SC5D STS	1717 2222 36 412 6309	Homo sapiens (human)
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	ACACA ACACB ACADVL ACOT7 ALOX15B ARSA B3GAT1 CD14 CD38 CD44 CTBS CYP11B1 CYP17A1 CYP19A1 DGKZ DHCR24 EOGT GAA GUSB HSD17B4 IGF2R MRC1 NAGA NAGLU PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SDHB SIRT6 SMUG1 SOAT1 SORD SPHK1 VCAN	11332 1462 1486 1584 1586 1588 1718 23583 247 2548 27087 285203 2990 31 32 3295 3482 37 410 4360 4668 4669 51548 5290 5291 5293 5294 5563 5728 5743 6390 6646 6652 8525 8877 929 9468 952 960	Homo sapiens (human)
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	Galk1	14635	Mus musculus (house mouse)
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	AKR1B1 ALG9 CYP51A1 G6PD GALE GALK1 GALM GALT GK GP2 LGALS1 MGAT1 SLC2A2 UGP2 UGT8	130589 1595 231 2539 2582 2584 2592 2710 2813 3956 4245 6514 7360 7368 79796	Homo sapiens (human)
DOID:14699	thrombocytopenia-absent radius syndrome Aliases: Radial aplasia-thrombocytopenia syndrome Thrombocytopenia with absent radii (TAR) syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	Htr2a	29595	Rattus norvegicus (Norway rat)
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:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	Htr2a	15558	Mus musculus (house mouse)
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	GPX3 MMUT OGG1 PCCA PCCB	2878 4594 4968 5095 5096	Homo sapiens (human)
DOID:14705	Pfeiffer syndrome Aliases: acrocephalosyndactylia type V	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 MTMR6 MTMR7 MTMR8 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55613 55624 64419 6517 79147 8776 8898 9107 9108 9200 9215 952	Homo sapiens (human)
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAA1 ACAA2 ACAT1 ACAT2 HADHB HSD17B4 OXCT1	10449 30 3032 3295 38 39 5019	Homo sapiens (human)
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	PIK3CA	5290	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st6	684979	Rattus norvegicus (Norway rat)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	si	797517	Danio rerio (zebrafish)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ABO ACE HS3ST6 MASP2 MBL2 SMUG1 VCAM1 XPNPEP2	10747 1636 23583 28 4153 64711 7412 7512	Homo sapiens (human)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hst-3.2	3564879	Caenorhabditis elegans
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hs3st6	100489739	Xenopus tropicalis (tropical clawed frog)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	Hs3st6 Myof	226101 328779	Mus musculus (house mouse)
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	hs3st6.L hs3st6.S	108701670 108703226	Xenopus laevis (African clawed frog)

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