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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **7851 - 7875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111923	spermatogenic failure 42 Aliases: SPGF42	TTC29	83894	Homo sapiens (human)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	fgf8b	65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:5419	schizophrenia Aliases: schizophrenia-1	ACE AGER AKT1 AKT3 ANK3 APOA4 ARPC1A ARPC1B ASH2L ASTN1 ATF2 ATN1 ATP5F1C AVPR1A B3GAT2 BACE1 BCHE BCL11A BRD1 CACNA1D CACNA1I CALY CHI3L1 CHL1 CHRFAM7A CHRM2 CHRNA7 CHST3 CNNM2 CNR1 CNTNAP2 COMT CREB1 CSMD1 CSMD3 CTNND2 CTSC CYFIP1 DNMT1 DRD2 DRD3 DRD4 DTNBP1 EGF EGFR ELFN1 ELK1 ERBB4 FOXP1 FOXP2 FZD3 GAD1 GAD2 GIGYF2 GLUL GNAS GRIA4 GRIK1 GRIN1 GRIN2A GRIN2B GRIN2D GRM2 GRM5 GRM8 GSK3B HIVEP2 HSPA1A HSPA1B HSPA1L HTR2A HTR2C IL10 IMPA2 ITGA8 KCNN3 KDM1A KMO L1CAM LRP8 LRRN3 LRRTM1 MAN2A2 MAP2 MAP6 MBNL1 MBP MDK MED15 MTOR NCAM1 NCSTN NGF NLGN2 NOS1 NOTCH4 NRG1 NRG3 NRXN1 NTRK1 NTRK2 NTSR1 OPA1 OPRM1 PAFAH1B1 PAK1 PDGFRB PIK3CD PLCB1 PPARA PPM1G PPP1R9B PPP3CA PTGS2 RELN RIMS1 RIMS2 RTN4R SBNO1 SETD1A SETDB1 SHMT2 SLC18A1 SLC6A1 SLC6A3 SNAP25 SNCA SP4 SRGAP3 SYN2 SYNGAP1 TAAR1 TAP1 TBP TCF4 TNF TNFRSF11B TPH1 UFD1 VWF YWHAZ ZNF521	10000 10095 10552 10718 1075 10752 1116 1129 1139 114788 1268 1312 134864 135152 1385 1386 1501 1636 177 1786 1813 1814 1815 1822 1950 1956 2002 2066 207 22999 23028 23191 23236 23385 23621 23774 2475 2571 2572 25925 26047 26058 27086 2752 2778 288 2893 2897 2902 2903 2904 2906 2912 2915 2918 2932 3084 3097 3303 3304 3305 3356 3358 337 347730 3586 3613 3782 3897 392617 4122 4133 4135 4154 4155 4192 460 4684 4803 4842 4855 4914 4915 4923 4976 4982 4988 5048 5058 50632 509 51586 5159 5293 53335 5465 54674 54805 5496 552 55206 5530 5649 5743 57555 590 64478 6472 65078 6529 6531 6570 6616 6622 6671 6854 6890 6908 6925 7124 7166 7353 7450 7534 776 7804 7976 84062 84687 8516 8564 8831 8911 89832 9070 9378 93986 9469 9699 9739 9869 9901	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110019	age related macular degeneration 7 Aliases: ARMD7	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11 Aliases: DEE11 early infantile epileptic encephalopathy 11	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080665	warfarin resistance	Cyp2c29	13095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9409	diabetes insipidus	has2	260350	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080471	developmental and epileptic encephalopathy 92	Lcch3	32554	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081219	autosomal recessive intellectual developmental disorder 57	mboat7.L	495497	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0001816	angiosarcoma Aliases: hemangiosarcoma	Myc Tp53	24577 24842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050466	Loeys-Dietz syndrome	Tgfb2 Tgfbr1 Tgfbr2	21808 21812 21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	chrna1	30725	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	Ndufs1 Ndufs2 Slc22a5 Uqcrb	289218 29726 301458 362897	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060050	autoimmune disease of blood	C38H2.2	176455	Caenorhabditis elegans	Alliance of Genome Resources
DOID:2972	renal artery obstruction	Sod3	36232	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	cs dlb dlc dsc2l dsg2.1 fkrp gdf3 jag1a orai1b	140421 30120 30125 30141 322339 402892 560026 560091 571426	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	kdr pon1 vegfaa	30682 447803 554230	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALOX12B	242	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	pomk	492773	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	ptc-1 ptc-3 ver-1	173631 174274 175182	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	Slc9a7	236727	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	CCAP-R Sod3 sfl	2768688 36232 38736	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112310	central precocious puberty 1 Aliases: CPPB1	Kiss1r	114229	Mus musculus (house mouse)	Alliance of Genome Resources

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