GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Display
results per page.

Clear

Submissions

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 **3851 - 3875** of **7942** in total

« First

‹ Prev

…

151

152

153

154

155

156

157

158

159

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	ACACA ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 31 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:0060422	chromosome 6pter-p24 deletion syndrome Aliases: 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0060062	familial juvenile hyperuricemic nephropathy	UMOD	7369	Homo sapiens (human)
DOID:14176	selective IgG deficiency disease Aliases: Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency	MBL2	4153	Homo sapiens (human)
DOID:10354	breast fibrocystic disease Aliases: Diffuse cystic mastopathy Fibrocystic disease of breast breast Fibrocystic Change	ACE CEACAM5 CEACAM7 COMT CRLS1 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 DCN GFRA1 GLA HSD17B1 INPP4B LPCAT1 MICA NCAM1 PTEN PTGS2 SDC3	100507436 1048 1087 1312 1543 1545 1583 1586 1588 1634 1636 2674 2717 3292 4684 54675 5728 5743 79888 8821 9672	Homo sapiens (human)
DOID:0050167	autoimmune polyendocrine syndrome type 1 Aliases: Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	ADH1A CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B LYZ VCAM1	124 1544 1555 1737 2215 4069 64581 7412 912	Homo sapiens (human)
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	ACAT2 ACSL6 AKR1C3 B4GALNT1 BCKDHB CD38 CDH13 CHI3L1 CLEC1B COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GAD1 GALT GPX3 HACD1 HJV HSD17B3 HSD17B4 HSD17B7 IGF2R KL LGALS1 LGALS3 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN SLC39A8 SMUG1 SRD5A2 STS SULT1E1 XPNPEP2	1012 1116 120227 1312 142 148738 1497 1555 1557 1581 1582 1588 23305 23583 2571 2583 2592 2878 3293 3295 3482 39 3956 3958 412 51266 51478 5226 5290 5291 5293 5294 5321 5373 5728 594 64116 6716 6783 7512 84649 8644 9200 92579 9365 952	Homo sapiens (human)
DOID:57	aortic valve insufficiency Aliases: Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency	ACE ACSS2 AKR1C3 ATP6AP2 CAT CHST3 CYP17A1 CYP19A1 CYP1A2 CYP2E1 GNPTAB GNPTG HPGDS HSD3B1 ICAM1 IDH1 IDH2 IDUA MBL2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PTEN PTGES3 SLC2A10 SLC35A1 STS TMTC3	10159 10559 10728 1544 1571 1586 1588 160418 1636 23659 27306 3283 3383 3417 3418 3425 412 4153 5290 5291 5293 5294 5321 55902 5728 79158 81031 84572 847 8644 9469	Homo sapiens (human)
DOID:0110511	autosomal recessive nonsyndromic deafness 59 Aliases: DFNB59 autosomal recessive deafness 59	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)
DOID:9848	endolymphatic hydrops Aliases: labyrinthine hydrops	FCGR3B HPGDS MICA NT5E PARP1	100507436 142 2215 27306 4907	Homo sapiens (human)
DOID:166	melanotic neuroectodermal tumor Aliases: Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour	MELTF	4241	Homo sapiens (human)
DOID:0112222	developmental and epileptic encephalopathy 88 Aliases: DEE88 early infantile epileptic encephalopathy 88	MDH1	4190	Homo sapiens (human)
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	CPT1A NCAM1 PIK3CA SGPL1 SLC2A4 SMUG1	1374 23583 4684 5290 6517 8879	Homo sapiens (human)
DOID:2481	obsolete infantile epileptic encephalopathy	ABAT ALDH7A1 ALG13 ALG2 ALG3 AMT ATP6V1A B3GALNT2 CACNA2D1 CYP2C19 DHDDS EPM2A GAPDH GCK GLYCTK HIBCH HMGCL HSD17B4 LMAN2L MAN1B1 MBOAT7 NDST1 NGLY1 PAFAH1B1 PDHA1 PGAP1 PIGA PIGC PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 ST3GAL3 SYNJ1 TECR TUSC3	10195 11253 132158 148789 1557 18 23236 2597 26275 2645 275 284098 3155 3295 3340 501 5048 51227 5160 523 5277 5279 5373 55768 64116 6487 7355 781 79143 7957 79644 79868 7991 79947 80055 81562 85365 8867 9091 91869 9524	Homo sapiens (human)
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency Aliases: MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2	APRT CPT1A CPT2 OGA	10724 1374 1376 353	Homo sapiens (human)
DOID:4790	medulloepithelioma Aliases: Diktyoma, malignant Medulloepithelioma, central nervous system	ABO AMACR CD38 CHGA ENO2 HMMR HPGDS MELTF MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIGLEC7 UGCG	1113 2026 23600 27036 27306 28 3161 4241 4360 5290 5291 5293 5294 5728 5743 7357 952	Homo sapiens (human)
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	GALK1	2584	Homo sapiens (human)
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	ACAN COMT HPGDS MMP25	1312 176 27306 64386	Homo sapiens (human)
DOID:13364	obsolete chronobiology disease	ACE	1636	Homo sapiens (human)
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	ACADVL ACE ACOX1 ACSL4 ACSM3 AGRN AKR1A1 ALG11 ALG12 ALOX12B ARSB ARSG ASAH1 B3GALNT2 B3GLCT CA4 CACNA2D2 CAT CERS3 CHAT CHST14 CHST3 COG1 COG4 COG5 COG7 COL9A2 COLEC10 COLEC11 CTSA CYP7B1 DHCR7 DOLK EBP ECHS1 ENPP1 FIG4 FKTN FUCA1 G6PC3 GAA GALC GALNS GAS1 GBA1 GBA2 GCK GLA GLB1 GMPPA GMPPB GNS GPC3 GUSB HEXA HGSNAT HPGDS HS6ST1 HSD17B4 IDH2 IDH3A IDH3B IDS IDUA KDSR L2HGDH LGALS1 LRTOMT MAN2B1 MANBA MASP1 MBL2 MGAT2 MOGS MTAP NAGA NAGLU NEU1 NPL NT5E NTNG1 OTOA OTOG PCYT1A PDHA1 PGAP2 PGM3 PIGA PIGL PIGO PIGV PIK3C2A PIK3CA PLA2G6 PLCB4 PLOD3 PNPLA2 PNPLA6 POMGNT1 POMT1 PRPS1 PTDSS1 PTEN PTGDS PTGS2 RFT1 SC5D SCD SDHA SDHB SDHC SDHD SGPL1 SGSH SLC26A2 SLC33A1 SLC35A2 SLC35G1 SLC39A8 SMC3 SPTLC1 ST3GAL5 SUCLA2 SUMF1 TALDO1 TECTA TMTC2 TNF UGT1A1 XYLT2	10327 10466 10558 10584 10585 10682 10908 1103 113189 1298 138050 145173 146183 148789 159371 160335 1636 1717 1836 1892 204219 2182 220074 2218 22845 22854 22901 242 2517 2531 2548 2581 25839 2588 2619 2629 2645 2717 2719 2720 27306 27315 2799 285362 2990 29925 29926 3073 3295 340990 3418 3419 3420 3423 3425 37 375790 3956 411 4125 4126 4153 4247 427 440138 4507 4668 4669 4758 4907 51 5130 5160 5167 5238 5277 5286 5290 5332 54658 5476 55624 55650 5631 5648 57104 5728 5730 5743 57704 6296 6309 6319 6389 6390 6391 6392 64116 64132 6448 6888 7007 7124 7355 762 7841 78989 79087 79944 80896 8398 847 84720 8803 8869 8879 8985 9126 91869 91949 9197 9254 92579 9382 9394 9420 9469 9487 9791 9896	Homo sapiens (human)
DOID:2745	narcissistic personality disorder	COMT IMPA1	1312 3612	Homo sapiens (human)
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)
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)
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	ACAT2 ACSL6 B4GALNT1 BCKDHB CD38 COMT CTNS CYP19A1 CYP2B6 CYP2C19 CYP2R1 CYP7A1 CYP8B1 DGAT2 G6PC3 GALT HACD1 HSD17B3 HSD17B4 IGF2R KL LGALS1 PARP1 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PMM2 PTEN XPNPEP2	120227 1312 142 1497 1555 1557 1581 1582 1588 23305 2583 2592 3293 3295 3482 39 3956 5226 5290 5291 5293 5294 5321 5373 5728 594 7512 84649 9200 92579 9365 952	Homo sapiens (human)

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements