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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 **4126 - 4150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110557	autosomal dominant nonsyndromic deafness 28 Aliases: DFNA28 autosomal dominant deafness 28	GRHL2	79977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	GRN TARDBP	23435 2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	SLCO2A1	6578	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	CBX2	84733	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	BAX CTNNB1 NME1 NME2 PGM1 PGM3 TERT TYMP WNT2B	1499 1890 4830 4831 5236 5238 581 7015 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	EGFR EMC1 ERBB2 ERBB3 ERBB4 FGR HCK HRAS KRAS MRE11 NOTCH1 NOTCH2 NOTCH3 NRAS PTPN1 PTPN2 RAB11A RAB11B SOX7 SRC YAP1	10413 1956 2064 2065 2066 2268 23065 3055 3265 3845 4361 4851 4853 4854 4893 5770 5771 6714 83595 8766 9230	Homo sapiens (human)	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	A2M ABCA1 APOE C3 C7 CD40 CDKN1B CFB CFH HLA-DQA1 LRP2 LRPAP1 MME MMP9 NPHS1 NPHS2 NPNT PTGER3 PTPRU RHOA SHH SPARC TBXAS1 TF	10076 1027 19 2 255743 3075 3117 348 387 4036 4043 4311 4318 4868 5733 629 6469 6678 6916 7018 718 730 7827 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080871	primary ovarian insufficiency 14	GDF9	2661	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080071	mucolipidosis III alpha/beta Aliases: mucolipidosis III pseudo-Hurler polydystrophy	GNPTAB	79158	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:178	vascular disease Aliases: vascular tissue disease	ADIPOQ CPS1 GLO1 IL1RN TIMP1	1373 2739 3557 7076 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:10123	pigmentation disease	ASIP ELN HERC2 IRF4 KITLG MC1R MMP9 OCA2 SLC24A4 SLC45A2 TPCN2 TYR TYRP1	123041 2006 219931 3662 4157 4254 4318 434 4948 51151 7299 7306 8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	AARS1 AARS2 ASPM AUTS2 CARS1 CDK5RAP2 CHKA CHKB CIT COPB2 DHX37 EFTUD2 ETNK1 ETNK2 EXOC7 KATNB1 KIF20B MAPKBP1 MFSD2A NSD1 ODF2 PSMB1 PUS7 SLC25A19 TUBA1A TUBB WDR62	10300 11113 1119 1120 16 203068 23005 23265 259266 26053 284403 4957 54517 55224 55500 55755 5689 57505 57647 60386 64324 7846 833 84879 9276 9343 9585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	ADAM10	102	Homo sapiens (human)	Alliance of Genome Resources
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	ABCA1 APOA1	19 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:13450	coccidioidomycosis Aliases: primary extrapulmonary coccidioidomycosis	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	NDUFB8	4714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	ABCA1 ABCC6 ACAT2 ACE ADIPOQ ADRB3 AGER AGTR1 AHSG APOA1 APOA2 APOA5 APOB APOC3 APOE APOM ARHGAP31 BCHE BRINP3 BTNL2 C1orf167 CBS CCL2 CCR1 CCR2 CCR5 CD14 CD40LG CDH5 CHI3L1 CLCN6 CLU CPE CUBN CYP2R1 ECE1 EDN1 ENG EPHX2 ESR1 F2 F7 FCGR2A FCGR3A FGB FTO GCK GP6 GPX1 GPX3 HFE HGF HMGCR HNF1A HP HSD11B1 HSPD1 IL10 IL15 IL1RL1 IL6 IRS1 ITGA2 KALRN KL LDLR LEPR LIPC LIPG LOX LPA LPL LRP8 LTA LUM MAP3K7 MLXIPL MMP12 MMP1 MMP3 MMP9 MYLK NAMPT NGF NGFR NOD2 NOS2 NOS3 NPPA NR1H3 NR3C1 OGG1 OLR1 PAPPA PECAM1 PLA2G7 PNPLA3 PON1 PON2 PPARA PPARG PTPN1 PTPRD RBP4 SELE SERPINA1 SERPINE1 SERPINF2 SLC2A4 SOAT2 SOD1 SOD3 SPP1 SREBF1 SREBF2 TEK THBD TLL1 TLR4 TNF TNFRSF11B TNFRSF1A TNNI3 TP53 TTN VEGFA VIM VTN XRCC1	1003 10062 10135 1116 116519 1185 1191 120227 1230 1234 1363 155 1636 177 185 1889 19 1906 197 2022 2053 2099 2147 2155 2212 2214 2244 2645 284498 2876 2878 2908 3077 3082 3156 3240 3290 3329 335 336 338 339479 345 348 3569 3586 3600 3667 3673 368 39 3949 3953 3990 4015 4018 4023 4049 4060 4312 4314 4318 4321 4638 4803 4804 4843 4846 4878 4968 4973 4982 5054 5069 51085 51206 5175 5265 5345 5444 5445 5465 5468 55937 56244 57514 5770 5789 590 5950 6347 6401 64127 6517 6647 6649 6696 6720 6721 6885 6927 7010 7056 7092 7099 7124 7132 7137 7157 7273 729230 7422 7431 7448 7515 7804 79068 7941 8029 80339 8435 875 8997 9173 929 9365 9370 9388 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	FOS PTGS2	2353 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	DCLRE1C FCGR2A HLA-DQB1 ICOS IL21R MBL2 NFKB2 PECAM1	2212 29851 3119 4153 4791 50615 5175 64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type Aliases: SED with elevated blood lysosomal enzymes SEDKF	MBTPS1	8720	Homo sapiens (human)	Alliance of Genome Resources

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