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

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:6438	malignant choroid melanoma Aliases: malignant melanoma of choroid melanoma of the Choroid	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:9182	pemphigus	ACE CAT CD1D CYP21A2 FCN2 MBL2 MRC1	1589 1636 2220 4153 4360 847 912	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5733	salpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:7505	small intestine benign neoplasm Aliases: neoplasm of small intestine small intestinal neoplasm	SDHA SDHB SDHC	6389 6390 6391	Homo sapiens (human)	DisGeNET
DOID:5500	cellular ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)	Alliance of Genome Resources
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	APRT HPRT1 PNP UMPS	3251 353 4860 7372	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060409	NFIA-related disorder Aliases: 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	LGALS8 PRNP XYLT1	3964 5621 64131	Homo sapiens (human)	DisGeNET
DOID:0060599	Nance-Horan syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2965	bursitis	PTGS1 PTGS2	5742 5743	Homo sapiens (human)	DisGeNET
DOID:1400	lacrimal apparatus disease	ARSD	414	Homo sapiens (human)	DisGeNET
DOID:540	strabismus	ACO2 ACOX1 ACSL4 ADPRS AGK ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GFPT1 GK GMPPB HIBCH HSD17B4 INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2	10195 10466 10585 10908 1103 113189 1312 148789 1545 1650 1718 1727 1892 197258 2132 2182 2218 23545 2581 2619 26275 2673 2710 285203 29925 29929 29954 3295 3897 4191 440138 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 64116 6785 7355 78989 79147 7915 79944 81031 8398 84197 84992 8803 8879 9091 9126 91869 9215 9254 93589 9487 9526	Homo sapiens (human)	DisGeNET
DOID:9651	systolic heart failure	ACE CYP19A1 LGALS3 PTGS2 SFTPA1	1588 1636 3958 5743 653509	Homo sapiens (human)	DisGeNET
DOID:10393	secondary hypertrophic osteoarthropathy Aliases: Bamberger-Marie disease HPOA - hypertrophic pulmonary osteoarthropathy Marie Bamberger disease hypertrophic pulmonary osteoarthropathy	CBR1 CD55 DPEP1 PTEN PTGS2 SFTPA1 SFTPA2 SFTPC	1604 1800 5728 5743 6440 653509 729238 873	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:10845	St. Louis encephalitis Aliases: Neuroinvasive St. Louis encephalitis virus infection	ACE CALR CAT CD14 CD33 CD48 FCN2 GLT1D1 LGALS1 MICA PIK3CD SELL SELP SEMA7A SGMS1 SIGLEC1 SOAT1	100507436 144423 1636 2220 259230 3956 5293 6402 6403 6614 6646 811 847 8482 929 945 962	Homo sapiens (human)	DisGeNET
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110581	autosomal dominant nonsyndromic deafness 56 Aliases: DFNA56 autosomal dominant deafness 56	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN PLCH1 POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23007 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080522	thyroid gland anaplastic carcinoma Aliases: anaplastic thyroid carcinoma	ACACA BCKDHB CAT CD1D CD44 CDH13 CLC CYP19A1 CYP24A1 CYP27B1 FDPS FUCA1 GAA GLO1 GPI HK2 ICAM1 IDH1 IDH2 IL18R1 KLB KLRK1 L1CAM LDHA LGALS3 MMUT PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PTEN PTGS2 SCD TKT ULBP2	1012 1178 152831 1588 1591 1594 2224 22914 2517 2548 2739 2821 3099 31 3383 3417 3418 3897 3939 3958 4594 5226 5290 5291 5293 5294 5310 5315 5728 5743 594 6319 7086 80328 847 8809 912 960	Homo sapiens (human)	DisGeNET
DOID:0060312	angular cheilitis Aliases: angular cheilosis angular stomatitis cheilosis commissural cheilitis	CLEC7A OCRL	4952 64581	Homo sapiens (human)	DisGeNET
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:780	placenta disease	ANXA5 HSD11B2 PRSS8	308 3291 5652	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11371	functional diarrhea Aliases: functional diarrhoea	AGA	175	Homo sapiens (human)	DisGeNET
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	ACACA ACE ACO1 AKR1B1 AKR1D1 ALDH2 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CD14 CYP27B1 FADS2 FUT1 FUT2 G6PD GALNS GLUL GNPAT GPC1 GPC3 GPC5 GPX1 HJV HPGDS ICAM1 IL1R1 LGALS3 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 PRNP RGMA RGMB SELE SELL SLC17A5 SLC39A8 SMPD1 STS SULT1E1 TNF TUSC3 UGT1A1 VCAM1	148738 1594 1636 217 2262 231 250 2523 2524 2539 2588 26033 26503 2719 27306 2752 2817 285704 2876 308 31 3383 3554 3958 410 412 4706 48 5290 5291 5293 5294 54658 5621 56963 6401 6402 64116 6609 6718 6783 7124 7412 7991 80339 811 84317 8443 847 929 9415	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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