GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **10101 - 10125** of **15957** in total

« First

‹ Prev

…

401

402

403

404

405

406

407

408

409

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:7736	retinal telangiectasia	KDR VEGFA	3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050793	short QT syndrome	KCNH2 KCNH6 KCNQ1	3757 3784 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	HIF1A PFKM	3091 5213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110934	nemaline myopathy 7 Aliases: NEM7 nemaline myopathy 7, autosomal recessive	CFL1	1072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA PPARG	150 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:4543	retrograde amnesia	PTGS2	5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050600	ABCD syndrome Aliases: ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ADGRB1 ADGRL4 AKT3 ASPM ATRX BAG3 BRD7 CBX8 CHAF1B CHI3L1 CPE CPEB1 CTSB CTSH DMBT1 E2F1 EGF ENPP1 EZH2 FLT3LG HEATR1 HRAS IDH1 IL16 KCNC2 KDR KRAS L1CAM MAP2K2 MAP2K3 MDM2 MGMT MMP2 MMP9 NRAS PDGFB PDGFRB PDPN PGF PIK3CB PIK3CD POLE PTGS1 PTGS2 PTPRB RB1 RPL35A SERPING1 SLC7A5 STAT3 STAT5A TNC TP53 XRCC1	10000 10630 1116 1363 1508 1512 1755 1869 1950 2146 2323 259266 29117 3265 3371 3417 3603 3747 3791 3845 3897 4193 4255 4313 4318 4893 5155 5159 5167 5228 5291 5293 5426 546 55127 5605 5606 57332 5742 5743 575 5787 5925 6165 64123 64506 6774 6776 710 7157 7515 8140 8208 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)	Alliance of Genome Resources
DOID:66	muscle tissue disease	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110461	X-linked dilated cardiomyopathy Aliases: CMD3B DMD-related dilated cardiomyopathy	DMD	1756	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	ATP7A ATP7B	538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111428	essential tremor 1 Aliases: ETM1 hereditary essential tremor 1	DRD3	1814	Homo sapiens (human)	Alliance of Genome Resources
DOID:2742	auditory system disease Aliases: ear and mastoid disease	FDXR MYO7A	2232 4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:12241	beta thalassemia	APOB APOE BCL11A CFB COL1A1 HBB HBS1L HFE HLA-DQB1 HP IGFBP3 IL1A IL6 PON1 TERT TNF	10767 1277 3043 3077 3119 3240 338 348 3486 3552 3569 53335 5444 629 7015 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	ANGPT2 CCL2 CCN2 CCR6 CDKN1B CFB CFH CXCR1 EDN1 EP300 F5 FN1 MYOC PFN1 PRF1 SPARC TGFBR2 TSLP	1027 1235 1490 1906 2033 2153 2335 285 3075 3577 4653 5216 5551 629 6347 6678 7048 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	INS	3630	Homo sapiens (human)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	CAPZB CDC42 COL11A2 COL2A1 COLEC11 FLNB GDF6 GOLGB1 MTHFD1 NECTIN1 ROR2 SDC2 SPECC1L UFD1	1280 1302 2317 23384 2804 392255 4522 4920 5818 6383 7353 78989 832 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:559	acute pyelonephritis	CXCR2 RBP4	3579 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111441	optic atrophy 1 Aliases: OPA1	OPA1 WFS1	4976 7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112186	thyroid dyshormonogenesis 2A Aliases: TDH2A genetic defect in thyroid hormonogenesis 2A iodide peroxidase deficiency thyroid peroxidase deficiency	TPO	7173	Homo sapiens (human)	Alliance of Genome Resources
DOID:11520	benign hypertensive renal disease Aliases: hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	ABCA1 ABCC2 ABCC3 ACACA ACACB ACOX1 ADIPOQ ADRB2 AHCY ALPL APOA1 APOB APOE CAT CCL5 CD163 CDIPT CPE CPS1 CTSB CYP2E1 DGAT2 FGFR1 G6PC1 GCK GGT1 GPX1 HADHA HADHB HFE HSPA5 HTR2A HTR2B IL10 IL13RA2 IL6 INS INSR LDLR LEP LGALS3 LRP6 MC4R NFKB1 NOX4 NR3C2 OPA1 PLAU PNPLA3 PPARA PPARG PPARGC1A PTEN PTGS2 RELA SEC63 SHC1 SIRT1 SLCO1A2 UCP2	10423 10891 11231 1244 1363 1373 1508 154 1571 19 191 2260 23411 249 2538 2645 2678 2876 3030 3032 3077 31 32 3309 335 3356 3357 338 348 3569 3586 3598 3630 3643 3949 3952 3958 4040 4160 4306 4790 4976 50507 51 5328 5465 5468 5728 5743 5970 6352 6464 6579 7351 80339 84649 847 8714 9332 9370	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements