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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 **8701 - 8725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111425	restrictive cardiomyopathy 1 Aliases: RCM1 familial restrictive cardiomyopathy 1	TNNI3	7137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111956	immunodeficiency 27B Aliases: IMD27B autosomal dominant IFNGR1 deficiency autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency autosomal dominant immunodeficiency 27B, mycobacteriosis autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency	IFNGR1	3459	Homo sapiens (human)	Alliance of Genome Resources
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	COL7A1 IGFBP3 MMP1	1294 3486 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:676	juvenile rheumatoid arthritis Aliases: Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis	CCR5 CIITA HFE HLA-DQA1 HLA-DQB1 HLA-DRB1 HSPD1 IL1A IL2 IL6 LACC1 MBL2 SELP SLC11A1 SLC26A2 THBD	1234 144811 1836 3077 3117 3119 3123 3329 3552 3558 3569 4153 4261 6403 6556 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111127	nephronophthisis 20 Aliases: NPHP20	MAPKBP1	23005	Homo sapiens (human)	Alliance of Genome Resources
DOID:2938	Epstein-Barr virus infectious disease Aliases: EBV Infection Epstein-Barr virus infection	CD163 CD68 FGFR2 HLA-DPB1 ITGB2 PTEN	2263 3115 3689 5728 9332 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070013	Seckel syndrome 2 Aliases: SCKL2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2	RBBP8	5932	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)	Alliance of Genome Resources
DOID:2006	preretinal fibrosis Aliases: Macular puckering of retina Macular retinal puckering cellophane maculopathy	TIMP1 TIMP3	7076 7078	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	EGF OSGEP	1950 55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:10223	dermatomyositis Aliases: Polymyositis with skin involvement dermatopolymyositis	AARS1 AARS2 ANGPTL2 CCR2 CD36 CD40 CD40LG CX3CL1 FAS HGF IFNG IL4 MBL2 MMP9 PMS1 ROBO1 SLIT2 STAT4 THBD TLR2 TLR4 TLR9	16 23452 3082 3458 355 3565 4153 4318 5378 54106 57505 6091 6376 6775 7056 7097 7099 729230 9353 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110367	retinitis pigmentosa 38 Aliases: RP38	MERTK	10461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080455	developmental and epileptic encephalopathy 52 Aliases: DEE52 early infantile epileptic encephalopathy 52	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	ABCA4 BARD1 BAX BDNF C3 CARD9 CFB CFH CLU CS DMD EYS FCGR1A HDAC4 HGF INHBA KCNH8 LCN2 MERTK NOS3 OTX1 OTX2 PARK7 PDE6B PDHA1 PDHA2 PKD2 PLCB4 PROM1 PROM2 PRPH2 PTPRC RAB6A SERPINF1 SH3RF1 TFPI2 VDAC1 VDAC2 VDAC3	10461 11315 1191 131096 1431 150696 1756 2209 24 3075 3082 346007 3624 3934 4846 5013 5015 5158 5160 5161 5176 5311 5332 57630 5788 580 581 5870 5961 627 629 64170 718 7416 7417 7419 7980 8842 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080334	aortic valve disease 2	FTO LMNA MMP2 SMAD6	4000 4091 4313 79068	Homo sapiens (human)	Alliance of Genome Resources
DOID:2340	craniosynostosis Aliases: Premature closure of cranial sutures	ALX4 BBS9 FGFR2 FGFR3 FLNA NELL1 NOG SKI TCF12 TWIST1	2261 2263 2316 27241 4745 60529 6497 6938 7291 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080642	Middle East respiratory syndrome	DPP4	1803	Homo sapiens (human)	Alliance of Genome Resources
DOID:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	AVP	551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111393	mucopolysaccharidosis type IIIC Aliases: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C)	GNS HGSNAT SGSH	138050 2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060801	MEHMO syndrome Aliases: MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25	EIF2S3	1968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050120	hemophagocytic lymphohistiocytosis Aliases: haemophagocytic syndrome	CD163	9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	CNR1 DEPDC5 MMP9	1268 4318 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:8566	herpes simplex Aliases: Herpesvirus hominis disease	APOE IRF5 MBL2	348 3663 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources

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