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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15501 - 15525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:110	lens disease	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111725	geleophysic dysplasia 1 Aliases: GPHYSD1	ADAMTSL2	9719	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ADAMTSL2 AGER AGT AKT1 BAD BAX CFL1 CNR1 EDN1 EDNRA HDAC3 HDAC4 IGFBP3 IL6 KDR MCAM NOS1 NOS2 NOS3 P2RY1 P2RY2 PDE5A PRKG1 SIRT1 TGFB1 THBD TNF XRCC1	1072 1268 177 183 1906 1909 207 23411 3486 3569 3791 4162 4842 4843 4846 5028 5029 5592 572 581 7040 7056 7124 7515 8654 8841 9719 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060249	scoliosis	ADAMTS9 FBN1 FBN2 FGFR3 MMP1 PTK7 TBX6 TPH1	2200 2201 2261 4312 56999 5754 6911 7166	Homo sapiens (human)	Alliance of Genome Resources
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ADAMTS5 ARSB TNF TNFSF11	11096 411 7124 8600	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060366	Hennekam syndrome Aliases: Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome	ADAMTS3 CCBE1 FAT4	147372 79633 9508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2	9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B3GALT6 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DCN LOX PLOD1 TGFB1 TNXB	11285 126792 1277 1278 1281 1289 1290 1634 4015 5351 7040 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:62	aortic valve disease	ADAMTS19 EGFR ELN NOS3 RBPJ	171019 1956 2006 3516 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ADAMTS19 ADCY2 CDC34 CHD6 CHD7 CHD8 CHD9 CMA1 CRIPTO DNMT1 FOXP1 GATA4 GDF1 GPX3 HCFC1 HCFC2 ITPR1 JAG1 JPT1 KMT2A KMT2B KMT2C KMT2D LEFTY2 LRP2 MYBPC1 MYBPC2 MYBPC3 MYH7 NAA15 NAA16 NFATC1 NOTCH1 PLCB2 RFC1 RNF20 RNF40 RPS24 SAP130 SMYD4 SON SP4 TAB2 TLL1 UBE2R2 USP17L3 USP42 VEGFA WDR5	108 11091 114826 1215 171019 1786 182 23118 2626 2657 27086 2878 29915 3054 3708 4036 4297 4604 4606 4607 4625 4772 4851 51155 5330 54926 55636 56254 57680 58508 5981 6229 645836 6651 6671 6997 7044 7092 7422 79595 79612 80155 80205 8085 84132 84181 9757 9810 997	Homo sapiens (human)	Alliance of Genome Resources
DOID:12336	male infertility	ADAMTS16 ARMC2 BSCL2 CABYR CAPZA3 CFAP47 CSNK2A2 CYLC1 FAS GPX3 KIT PMFBP1	1459 1538 170690 26256 26580 286464 2878 355 3815 83449 84071 93661	Homo sapiens (human)	Alliance of Genome Resources
DOID:11383	cryptorchidism Aliases: Cryptorchism Undescended testicle Undescended testis undescended testicles	ADAMTS16 ANXA5 AR ESR1 FAS GFER HOXD13 HSF1 IGF1R NGF RXFP2 STS SYNE2	122042 170690 2099 23224 2671 308 3239 3297 3480 355 367 412 4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	ADAMTS15 ECEL1 FBN2 MET MYBPC1 MYH15 MYH1 MYH7	170689 2201 22989 4233 4604 4619 4625 9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 BCHE GC GRN HLA-DQB1 HLA-DRB1 IGFBP3 IL4R MMP9 SHH	140766 2638 2896 3119 3123 3486 3566 4318 590 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	ADAMTS14 APOA4 CD36 CD80 CSPG4 CTSS FAS GRN HAVCR1 HSPA8 MMP19 MMP9 NEFH NEFL NOD2 NOG SERPINE1 TIMP1	140766 1464 1520 26762 2896 3312 337 355 4318 4327 4744 4747 5054 64127 7076 9241 941 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080177	hepatic veno-occlusive disease Aliases: veno-occlusive disease	ADAMTS13 HFE MMP9	11093 3077 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ADAMTS13 ELANE F13A1 F2 F3 FGA GP6 IL10 IL6 PLAT PROC SERPINC1 SERPINE1 TFPI THBD TNF	11093 1991 2147 2152 2162 2243 3569 3586 462 5054 51206 5327 5624 7035 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13133	HELLP syndrome	ADAMTS13 CD40LG ERBB2 FAS FASLG	11093 2064 355 356 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:10772	thrombotic thrombocytopenic purpura Aliases: Moschcowitz's syndrome	ADAMTS13 CD36 HLA-DQB1 PROC TFPI	11093 3119 5624 7035 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080301	atypical hemolytic-uremic syndrome	ADAMTS13 C3 CD46 CFB CFH CFHR1 CFHR3 CFI THBD	10878 11093 3075 3078 3426 4179 629 7056 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	ADAMTS13 AGER APOA1 C1QA C2 C3 C4A C4B C4B_2 CAST CCL2 CCR3 CCR5 CD40 CD40LG CD46 CD80 CFH CHAF1A CIITA CLU CR2 CTLA4 CXCR2 CYBB CYP1A1 DNASE1 DNMT1 ELN EP300 EPOR F2 FAS FCGR2A FCGR2B FCGR2C FCGR3A HLA-DQB1 HLA-DRB1 HSPA1A HSPA1L HSPD1 IFNG IKZF3 IL10 IL13 IL17A IL1RN IL21 IL21R IL23R IL2 IL5 INPP5D IRF5 JAK1 JUNB KLKB1 LBR LDLR LPA MAN2A1 MBL2 MKI67 MMP1 NOD2 P2RY12 PDCD1 PGF PLD4 PPARG PRDM1 PRF1 PTPRC RC3H1 RO60 SELL SFTPD SLC11A1 SNRNP70 SNRPC SNRPD1 SNRPD2 SOD2 STAT4 TAB2 TAB3 TAP1 TFPI THBD TIMD4 TLR5 TLR7 TLR9 TNF TNFRSF13B TNFRSF1A TNFRSF1B TRAF3IP2 VCAM1 VIM	100293534 10036 10758 11093 1191 122618 1232 1234 1380 149041 149233 1493 1536 1543 177 1773 1786 2006 2033 2057 2147 2212 2213 2214 22806 23118 23495 257397 3075 3119 3123 3303 3305 3329 335 3458 355 3557 3558 3567 3579 3586 3596 3605 3635 3663 3716 3726 3818 3930 3949 4018 4124 4153 4179 4261 4288 4312 50615 51284 5133 5228 54106 5468 5551 5788 59067 6347 639 6402 64127 6441 64805 6556 6625 6631 6632 6633 6648 6738 6775 6890 7035 7056 7100 712 7124 7132 7133 717 718 720 721 7412 7431 831 9103 91937 941 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	ADAMTS10 ADAMTS17 FBN1 LTBP2 TNF	170691 2200 4053 7124 81794	Homo sapiens (human)	Alliance of Genome Resources
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ADAMTS1 BNC2	54796 9510	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	ADAM9	8754	Homo sapiens (human)	Alliance of Genome Resources
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ADAM9 BRCA1 CADM1 CD274 CD46 CDH1 CDKN1B CSF1R CTNNA1 DLG1 FASLG HDAC1 HDAC2 HDAC6 HLA-DRB1 IGFBP3 MLH1 MMP2 MSH2 PDCD1 PHB1 PTEN PTGS2 RB1 RELA SKP2 STAT3 TERT TLR9 TOP2A VEGFA XIAP	10013 1027 1436 1495 1739 23705 29126 3065 3066 3123 331 3486 356 4179 4292 4313 4436 5133 5245 54106 5728 5743 5925 5970 6502 672 6774 7015 7153 7422 8754 999	Homo sapiens (human)	Alliance of Genome Resources

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