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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 **9751 - 9775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1555	urticaria	ADRB2 BDNF CCR2 CCR3 CCR5 F2 HLA-DRB1 NGFR SOD2	1232 1234 154 2147 3123 4804 627 6648 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	FGFR1 GNRHR NSMF	2260 26012 2798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	BSCL2 PCYT1A	26580 5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070437	hyperphosphatasia with impaired intellectual development syndrome 6 Aliases: GPIBD40 HPMRS4 glycosylphosphatidylinositol biosynthesis defect 40 hyperphosphatasia with mental retardation syndrome 4	PIGY	84992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110386	retinitis pigmentosa 42 Aliases: RP42	KLHL7	55975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features Aliases: IDDOF MTSS2-related neurodevelopmental disorder	MTSS1 MTSS2	92154 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112368	Coffin-Siris syndrome 5 Aliases: CSS5	SMARCE1	6605	Homo sapiens (human)	Alliance of Genome Resources
DOID:3159	photosensitivity disease Aliases: Photodermatitis	BRD2 ELN	2006 6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111901	heparin cofactor II deficiency Aliases: HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency	SERPIND1	3053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2 Aliases: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica	ITM2B	9445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070139	autosomal recessive cutis laxa type IC Aliases: ARCL1C autosomal recessive cutis laxa type 1C	LTBP4	8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110859	polycystic kidney disease 2 Aliases: Apkd2 Pkd2 Polycystic Kidney Disease, Adult, Type II	PKD2 PKD2L1 PKD2L2	27039 5311 9033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	GLUD1	2746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s Aliases: MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	ABCB1 ABCG2 CAT DRD2 EPHA4 IGF1R IL10 SLC18A2	1813 2043 3480 3586 5243 6571 847 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080238	autosomal dominant intellectual developmental disorder 47 Aliases: autosomal dominant mental retardation 47	STAG1	10274	Homo sapiens (human)	Alliance of Genome Resources
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	F13A1 LMAN1	2162 3998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	ADAM28 PIK3CA	10863 5290	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:0111580	Behr syndrome Aliases: Abortive cerebellar ataxia (BEHRS) BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080600	COVID-19 Aliases: 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection	A2M ABO ACE2 ACE AGTR1 ALB ANGPT2 BDH1 BTK C3 C4BPA C4BPB CALCA CCL2 CCL5 CCL7 CD4 CD8A CFH CSF1 CSF2 CSF3 CXCL16 ELANE F2 F3 FTH1 GFAP GZMB HGF HLA-B HLA-C IFNB1 IFNG IFNL1 IL10 IL13 IL17A IL1R1 IL2 IL2RA IL2RB IL2RG IL4 IL6 IL7 IL9 KIR3DS1 LCN2 LGALS3 MMP1 MMP2 MMP8 NEFL NPPB NRP1 PDGFB PLG SELE SERPINF2 SERPING1 THBS1 TLR7 TNF VEGFA	1435 1437 1440 1636 185 1991 2 213 2147 2152 2495 2670 28 282618 285 3002 3075 3082 3106 3107 3456 3458 3554 3558 3559 3560 3561 3565 3569 3574 3578 3586 3596 3605 3813 3934 3958 4312 4313 4317 4747 4879 51284 5155 5340 5345 58191 59272 622 6347 6352 6354 6401 695 7057 710 7124 718 722 725 7422 796 8829 920 925	Homo sapiens (human)	Alliance of Genome Resources
DOID:5295	intestinal disease	BAX BMPR1A MUC2 NOD2 SLC10A2 SOD2	4583 581 64127 6555 657 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations Aliases: MCPH2	MAPKBP1 WDR62	23005 284403	Homo sapiens (human)	Alliance of Genome Resources

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