GlyCosmos Portal

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

Displaying entries **4851 - 4875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:12897	submandibular gland disease	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	ASXL1 CBL CSF3R PDGFRB TET2	1441 171023 5159 54790 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110540	autosomal recessive nonsyndromic deafness 98 Aliases: DFNB98 autosomal recessive deafness 98	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1934	dysostosis	EFNB1 KIF3A	11127 1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	MXI1 VEGFA	4601 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080939	hereditary angioedema type I	SERPING1	710	Homo sapiens (human)	Alliance of Genome Resources
DOID:12799	mucopolysaccharidosis II Aliases: Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase	IDS	3423	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	ABAT TRPV1	18 7442	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:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	GABRA1	2554	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:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	EHMT1	79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	ASPH ATXN2 ATXN2L CDIPT DOC2B KIF3C PAGR1 PPP4C TAOK1 TAOK2 TBX6	10423 11273 3797 444 5531 57551 6311 6911 79447 8447 9344	Homo sapiens (human)	Alliance of Genome Resources
DOID:10923	sickle cell anemia Aliases: Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease sickle cell anaemia	APOB BCL11A C3 CD36 CD40LG CFB CYP2C19 F2 F3 GPX1 HBB HK1 HLA-DQB1 NOS3 NPPB PECAM1 PGF PON1 SPTA1 TGFB1 TNF	1557 2147 2152 2876 3043 3098 3119 338 4846 4879 5175 5228 53335 5444 629 6708 7040 7124 718 948 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111376	fetal akinesia deformation sequence syndrome 3 Aliases: FADS3	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	IL3 STAT4	3562 6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	MPL	4352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ABCB1 ADAMTS1 AGER AKAP12 AKAP1 AKT1 ALOX15 ALOX5 ANGPT1 ANGPT2 ANXA1 APEX1 AQP3 AQP4 AQP5 AQP8 BAD BMP6 BTG2 C3 CASP6 CAST CAT CCL2 CCR5 CDK5 CLU CP CREB1 CSF2RB CSF3 CSPG4 CTSB CTSC CTSL CTSV DBH DPYSL2 DRD2 EDN1 EPOR F2R FAS FASLG FGA GAL GC GFRA1 GLUD1 GLUD2 HIF1A HSPA1B HSPA8 HSPA9 IL17A IL6ST IRAK1 IRAK4 ITGAM KCNK10 KCNK2 KDR LGALS3 LIF LONP1 MAP2 MAPT MDH2 MDK MMP13 MMP14 MMP2 MMP9 MSI1 NES NOS1 NOS3 NPPA NPTXR NR3C1 OPRM1 PAK1 PCNA PGF PLA2G4A PLAT PPP1R15A PRKACB PRKCA PROZ PTGIS PTGS1 PTGS2 RET SCN5A SELE SERPINE1 SLC11A2 SLC29A1 SLC6A1 SLC8A1 SLC8A2 SLC8A3 SOS1 SRC TEK TGFB1 TJP1 TLR4 TNFRSF1A TTR	1020 1075 10763 1191 1234 1356 1385 1439 1440 1464 1508 1514 1515 1621 177 1808 1813 1906 2030 2057 207 2149 2243 23467 23645 240 246 2638 2674 2746 2747 284 285 2908 301 3091 328 3304 3312 3313 343 355 356 3572 360 3605 361 362 3654 3684 3776 3791 3958 3976 4133 4137 4191 4192 4313 4318 4322 4323 4440 4842 4846 4878 4891 4988 5054 5058 51083 5111 51135 5228 5243 5321 5327 54207 5567 5578 572 5740 5742 5743 5979 6331 6347 6401 6529 654 6543 6546 6547 6654 6714 7010 7040 7082 7099 7132 718 7276 7832 8165 831 839 847 8858 9361 9510 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources

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