GlyCosmos Portal

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

Displaying entries **3776 - 3800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	DCN LIPA PARP1	142 1634 3988	Homo sapiens (human)
DOID:0110472	autosomal recessive nonsyndromic deafness 17 Aliases: DFNB17 autosomal recessive deafness 17	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:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)
DOID:10887	lepromatous leprosy Aliases: type L leprosy	CD1D CD74 DPEP1 FCN1 ICAM1 ICAM2 IL1R1 MASP2 MBL2 SELE VCAM1	10747 1800 2219 3383 3384 3554 4153 6401 7412 912 972	Homo sapiens (human)
DOID:6225	Cronkhite-Canada syndrome Aliases: gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes	PTEN	5728	Homo sapiens (human)
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	ACE	1636	Homo sapiens (human)
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	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)
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	DDOST	1650	Homo sapiens (human)
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	ACAT1 ACE ALG1 ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 51196 5290 5291 5293 5294 5310 5373 56052 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	ACSS2 AMY1A AMY1B AMY1C APRT ENPP1 PLA2G15 SUCLG1	23659 276 277 278 353 5167 55902 8802	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	CAT CYP19A1 IGF2R TP53	1588 3482 7157 847	Homo sapiens (human)
DOID:14174	central neurocytoma Aliases: Neurolipocytoma	IDH1	3417	Homo sapiens (human)
DOID:13214	hole retinal cyst Aliases: Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst	GALNS RPE	2588 6120	Homo sapiens (human)
DOID:12835	quadriplegia Aliases: tetraplegia	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	ACO1 AKR1B1 AKR1D1 ALDH2 CALR CD14 FADS2 FUT1 FUT2 GNPAT GPC1 GPC3 GPC5 HJV HPGDS ICAM1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SELL STS SULT1E1 TUSC3 UGT1A1 VCAM1	148738 217 2262 231 2523 2524 2719 27306 2817 3383 3958 412 48 5290 5291 5293 5294 54658 6401 6402 6718 6783 7412 7991 80339 811 8443 929 9415	Homo sapiens (human)
DOID:1607	hypoglycemic coma	ACADM GCK HADH HMGCL	2645 3033 3155 34	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	ACO1 AGA ARSA ARSD B3GAT1 BST2 CAT CBR1 CD14 CD38 CHAT COMT CPT1B CYP17A1 CYP19A1 CYP2B6 ENO2 ENOSF1 FCGR3B GAD1 GAPDH GMPPA GPI GPX1 GPX3 HAS2 HPGDS HPSE2 ICAM1 IL1RL1 INPP5D LTA4H MRC1 NCAM1 NT5E PARP1 PARP4 PCYT1A PEMT PFKL PGD PIGP PIK3CD PIP4K2A PLA2G2D POFUT2 PRNP PRSS21 PTGS2 RENBP SHMT1 SHMT2 SOAT1 STS SUCLA2 SULT1E1 SYNJ1 SYNJ2 TNFRSF10C	10400 10942 1103 1312 1375 142 143 1555 1586 1588 175 2026 2215 23275 2571 2597 26279 27087 27306 2821 2876 2878 29926 3037 3383 3635 4048 410 412 414 4360 4684 48 4907 51227 5130 5211 5226 5293 5305 55556 5621 5743 5973 60495 6470 6472 6646 6783 684 847 873 8794 8803 8867 8871 9173 929 952	Homo sapiens (human)
DOID:0060903	thrombosis	ANXA5 CD177 CD55 CYP3A5 DCN FUT4 PIK3CB PTGS1 PTGS2 TBXAS1	1577 1604 1634 2526 308 5291 57126 5742 5743 6916	Homo sapiens (human)
DOID:14484	sporotrichosis	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MASP2 MBL2 MRC1	10747 1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)

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