GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6951 - 6975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	LARGE1	9215	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070208	hereditary lymphedema IC Aliases: LMPH1C	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110726	neuronal ceroid lipofuscinosis 2 Aliases: CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset	TPP1	1200	Homo sapiens (human)	Alliance of Genome Resources
DOID:9719	neovascular inflammatory vitreoretinopathy Aliases: ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy	AGER APOA4 BDNF CAT EDN1 HGF ICAM1 IGFBP6 IL6 KNG1 LRP5 LTA SERPINF1	177 1906 3082 337 3383 3489 3569 3827 4041 4049 5176 627 847	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:2030	anxiety disorder Aliases: anxiety anxiety state	ADRA2A BDNF CNR2 CREB1 CTNND2 CYP3A5 DRD2 ELK1 GAD1 GDNF HCN1 HDAC2 HTR1A HTR1B HTR2C HTR7 KDM3B L1CAM LEF1 MANEA MC4R NCOR1 NODAL NPY1R NTRK2 POMC SCN1A SCN2A SCN3A SCN9A SLC18A2 SLC6A4 TSC2	1269 1385 150 1501 1577 1813 2002 2571 2668 3066 3350 3351 3358 3363 348980 3897 4160 4838 4886 4915 51176 51780 5443 627 6323 6326 6328 6335 6532 6571 7249 79694 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	HS6ST1	9394	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110007	achromatopsia 2 Aliases: ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2	CNGA3	1261	Homo sapiens (human)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	ADAR CD274 EGFR FGFR3 HLA-DPB1 HLA-DRB1 IL1RL1 TLR3 TLR9	103 1956 2261 29126 3115 3123 54106 7098 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050489	multinodular goiter	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:670	amphetamine abuse	AKT1 BDNF CAT CD4 CD8A CFH COMT CREB1 FOS FOSB GABBR1 GABRG2 GAD1 GAD2 GRIA1 MAP3K6 NPY1R SLC18A1 SLC18A2 SNCA	1312 1385 207 2353 2354 2550 2566 2571 2572 2890 3075 4886 627 6570 6571 6622 847 9064 920 925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111571	Weyers acrofacial dysostosis Aliases: Curry-Hall syndrome WAD Weyers acrodental dysostosis acrofacial dysostosis, Weyers type	EVC2	132884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080728	Ehlers-Danlos syndrome arthrochalasia type 2	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:699	mitochondrial myopathy Aliases: mitochondrial cytopathy	COL15A1 COL18A1	1306 80781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050774	rapadilino syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112193	tetraamelia syndrome 2 Aliases: TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia	RSPO2	340419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	FGF10 FGFR2	2255 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110896	inflammatory bowel disease 16 Aliases: IBD16	TNFSF15	9966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:2300	spondylolysis	SLC26A2	1836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources

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