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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 **3151 - 3175** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:14080	glucocorticoid-remediable aldosteronism Aliases: GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism	CYP11B1	1584	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:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR GDNF	2668 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:8683	myeloid sarcoma Aliases: Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma	CCR2 KRAS PDGFRA	3845 5156 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B3GALT6 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DCN LOX PLOD1 TGFB1 TNXB	11285 126792 1277 1278 1281 1289 1290 1634 4015 5351 7040 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110117	autoimmune lymphoproliferative syndrome type 4 Aliases: ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV	KRAS NRAS	3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	ACE2 ACE ACTB ADGRL4 ADM AGT AHR CACNB2 CD36 CMA1 CS CTSL CYP1A1 CYP1B1 CYP2E1 DNMT1 DSP EDN1 EPHX2 FHL1 HRAS HTR2B ICAM1 IGF1R KRAS LAMP2 MAP3K7 MMP1 MMP2 MMP9 MYBPC3 MYH7 NPPA NPPB NRAS ORAI1 ORAI3 PKD1 PTPN11 SDHD SLC25A6 STIM1 STIM2 TNNI3 VCL XIRP1	1215 133 1431 1514 1543 1545 1571 1636 165904 1786 183 1832 1906 196 2053 2273 293 3265 3357 3383 3480 3845 3920 4312 4313 4318 4607 4625 4878 4879 4893 5310 57620 5781 59272 60 6392 64123 6786 6885 7137 7414 783 84876 93129 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR CBS CD40LG CFL1 FUT2 GPX3 MTR PON1	1072 2524 2878 4548 5444 811 875 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)	Alliance of Genome Resources
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	FGFR1 FGFR2 TWIST1	2260 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:13714	anodontia Aliases: Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth	DKK1 GLI3 MMP13 MMP9	22943 2737 4318 4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110810	hereditary spastic paraplegia 5A Aliases: SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABCA1 ABCB4 ABCC2 ACE2 ACE AGT AQP4 CCL5 CCN2 CD14 CD68 COL1A1 CPEB1 CPEB4 CTLA4 DAG1 DNASE1 ENTPD2 FAS HHIP HLA-DQA1 IFNG IL10 IL12A IL12RB1 IL4 IL6 KRT18 LBR LEP LEPR MAS1 MMP13 MMP2 MMP3 MMP9 MUC2 NOS2 NOS3 NR3C1 NUP62 PDE5A PPARGC1A RELA REN RPS6KB1 SLCO1A2 SLCO1C1 SOD2 STAT4 TLR9 TNF UTP4 VEGFA	10891 1244 1277 1490 1493 1605 1636 1773 183 19 23636 2908 3117 3458 355 3565 3569 3586 3592 3594 361 3875 3930 3952 3953 4142 4313 4314 4318 4322 4583 4843 4846 5244 53919 54106 59272 5970 5972 6198 6352 64399 64506 6579 6648 6775 7124 7422 80315 84916 8654 929 954 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	MTRFR	91574	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050692	Brody myopathy	ATP2A3	489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:14654	prostatitis	BAMBI CCL11 CYP19A1 IL10 PTGS2 SMAD4	1588 25805 3586 4089 5743 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	SKIC2	6499	Homo sapiens (human)	Alliance of Genome Resources
DOID:285	hairy cell leukemia	GPX1 IL1RN	2876 3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060887	ossification of the posterior longitudinal ligament of spine Aliases: OPLL	BMP4 ENPP1	5167 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	GNPAT	8443	Homo sapiens (human)	Alliance of Genome Resources

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