GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1 - 25** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 Aliases: SSFSC2	SCUBE3	222663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111410	exudative vitreoretinopathy 6 Aliases: EVR6	ZNF408	79797	Homo sapiens (human)	Alliance of Genome Resources
DOID:3911	progeria Aliases: HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:7693	abdominal aortic aneurysm Aliases: AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1	AHCY APOE ELN FOLH1 HLA-DQA1 HLA-DRB1 ITGAV MMP12 MMP13 MMP1 MTHFD1 MTR PLA2G7 PON1 SLC19A1 SORT1 TYMS	191 2006 2346 3117 3123 348 3685 4312 4321 4322 4522 4548 5444 6272 6573 7298 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	ACTN2 CDH2 DES DSC2 DSG2 DSP LMNA PKP2 RYR2 TGFB3 TMEM43	1000 1674 1824 1829 1832 4000 5318 6262 7043 79188 88	Homo sapiens (human)	Alliance of Genome Resources
DOID:4378	peanut allergy Aliases: allergy to peanuts peanut allergic reaction	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060387	chondrodysplasia Blomstrand type Aliases: Blomstrand lethal chondrodysplasia	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:2300	spondylolysis	SLC26A2	1836	Homo sapiens (human)	Alliance of Genome Resources
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	CYP1A1 KDM4C	1543 23081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081225	autosomal recessive intellectual developmental disorder 64	LINGO1	84894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112141	retinitis pigmentosa 84 Aliases: RP84	DHX38	9785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111358	Floating-Harbor syndrome Aliases: FLHS	SRCAP	10847	Homo sapiens (human)	Alliance of Genome Resources
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	LDB3	11155	Homo sapiens (human)	Alliance of Genome Resources
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	CRB1 MYO7A PRPH2	23418 4647 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:3310	atopic dermatitis Aliases: Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema	APOE BDNF CLDN1 CMA1 CTLA4 DOCK8 HAVCR1 IL13 IL2 IL4 IL4R MBL2 NAT2 SELP SHOC2 TGFB1 TLR2 TLR4 TNF	10 1215 1493 26762 348 3558 3565 3566 3596 4153 627 6403 7040 7097 7099 7124 8036 81704 9076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070234	Loeys-Dietz syndrome 2 Aliases: AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:12449	aplastic anemia	DKC1 HLA-DQA1 HLA-DQB1 IFNG NBN PRF1 TGFB1 THPO TNF	1736 3117 3119 3458 4683 5551 7040 7066 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112245	focal segmental glomerulosclerosis 3 Aliases: FSGS3	CD2AP	23607	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112346	hereditary spastic paraplegia 83 Aliases: SPG83 spastic paraplegia 83 autosomal recessive	HPDL	84842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070124	congenital nongoitrous hypothyroidism 2 Aliases: CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia	PAX8	7849	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080620	familial glucocorticoid deficiency	NNT	23530	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060797	hypomyelinating leukodystrophy 8 Aliases: HLD8	POLR3B	55703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070056	autosomal dominant intellectual developmental disorder 26 Aliases: MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26	AUTS2	26053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080750	erythema nodosum	HLA-B LTA TNF	3106 4049 7124	Homo sapiens (human)	Alliance of Genome Resources

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