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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 **7851 - 7875** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0110137	Bardet-Biedl syndrome 15 Aliases: BBS15	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110135	Bardet-Biedl syndrome 13 Aliases: BBS13	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110133	Bardet-Biedl syndrome 11 Aliases: BBS11	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110132	Bardet-Biedl syndrome 10 Aliases: BBS10	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	Arl6	56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	INPP5E PIGX	54965 56623	Homo sapiens (human)	DisGeNET
DOID:0060549	Barber-Say syndrome	XYLT1	64131	Homo sapiens (human)	DisGeNET
DOID:0060229	Baraitser-Winter syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome Aliases: Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome	ACAN ACAT1 ACE ARSD CEACAM6 CHST3 COL9A2 CYP11A1 DGCR2 GPX1 IL18RAP INPP5E MBL2 MUTYH PIGX PIK3CA PIK3CB PIK3CD PIK3CG PTEN SCD SDC1 SDHB SDHC SDHD SORD	1298 1583 1636 176 2876 38 414 4153 4595 4680 5290 5291 5293 5294 54965 56623 5728 6319 6382 6390 6391 6392 6652 8807 9469 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060215	Balo concentric sclerosis Aliases: Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis	ACE ACHE ALDH7A1 ARSB CD38 CD44 CH25H CHAT CHKB COLGALT1 COMT CPT1B CYP1A2 CYP2B6 CYP2C9 CYP3A4 EBP ECHS1 EPM2A GAD2 GALNT14 GLB1 GPC5 HS6ST3 ICAM1 IDH2 IDS IDUA MBL2 MDGA2 MGAT1 MGLL NCAM1 NDST3 NYX PARP1 PIK3CD PLB1 PRNP PTEN RTN4R SGSH SLC17A5 SUMF1	10682 1103 1120 11343 1312 1375 142 151056 1544 1555 1559 1576 161357 1636 1892 2262 2572 26503 266722 2720 285362 3383 3418 3423 3425 411 4153 4245 43 4684 501 5293 5621 5728 60506 6448 65078 7957 79623 79709 9023 9348 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3052	Balkan nephropathy Aliases: Balkan endemic nephropathy DEFN Danubian endemic familial nephropathy	CYP2B6 CYP3A5 HSPG2 IL1R1 LIPA	1555 1577 3339 3554 3988	Homo sapiens (human)	DisGeNET
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	AKR1C3 CYP3A5 TP53	1577 7157 8644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	Trp53	22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	Tp53	24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ACAA1 ACACA ACACB ACE ACHE ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALPP AMACR ANXA5 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEL CFC1 CHI3L1 CLEC10A CNTN2 COMT CS CSPG4 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FASN FBP1 FCER2 FCGR3B FCN2 FH FMOD FUT1 G6PD GAPDH GBA1 GBE1 GFRA1 GGT1 GLB1 GLDC GPX1 H6PD HACD1 HK2 HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RAPL1 INPP5D ITPKB KDSR KL KLRK1 LDHA LGALS1 LGALS3 LY6G6D LYPD5 MASP2 MCAT MRC1 MTAP NAMPT NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PARP9 PC PDHX PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PRKAA2 PSMD10 PTEN PTGS2 SDC1 SELE SELL SHMT1 SHMT2 SIGLEC10 SIRT4 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC35B2 SMUG1 SOAT1 SPHK1 STS TMEM260 VCAM1 VNN1 VTCN1	1012 10135 10327 1040 10462 1048 1056 10747 10998 11141 1116 1312 142 1431 1464 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 197322 200576 2053 2194 2203 2208 2215 2220 2271 22914 23205 2331 23409 23583 23600 250 2523 2531 2539 2597 26033 2629 2632 2674 2678 2720 27306 2731 27349 284348 2876 30 308 3099 31 32 3383 3417 3418 347734 353 3554 3635 3707 3939 3956 3958 412 43 4360 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 5315 54916 5563 55997 56052 5716 5728 5743 58530 6382 6401 6402 6470 6472 6514 6515 6517 6646 6900 7412 79679 8050 83666 847 8644 8692 8876 8877 89790 9200 929 933 9365 945 952 9563 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060592	B-cell adult acute lymphocytic leukemia Aliases: B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia	CD22 FCN2 FUT4 MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	2220 2526 4153 5290 5291 5293 5294 5728 933	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110121	Axenfeld-Rieger syndrome type 2 Aliases: RIEG2 Rieger syndrome type 2	SULT1E1	6783	Homo sapiens (human)	DisGeNET
DOID:0050432	Asperger syndrome	ARSD SLC25A12	414 8604	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050432	Asperger syndrome	aralar1	43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050647	Arts syndrome Aliases: ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type	PRPS1	5631	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis Aliases: trapezoidocephaly-synostosis syndrome	CYP1A2 CYP2B6 CYP51A1	1544 1555 1595	Homo sapiens (human)	DisGeNET DisGeNET

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