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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 **7201 - 7225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:9270	alkaptonuria Aliases: Homogentisate 1,2-dioxygenase deficiency alcaptonuria	HGD	3081	Homo sapiens (human)	Alliance of Genome Resources
DOID:8472	localized scleroderma Aliases: Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea	HGF ICAM1 IL13 MMP1 TGFB1	3082 3383 3596 4312 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	HGF KDR VEGFA	3082 3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:14256	adult-onset Still's disease Aliases: adult onset Still's disease adult-onset Still disease	HGF VEGFA	3082 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110497	autosomal recessive nonsyndromic deafness 39 Aliases: DFNB39 autosomal recessive deafness 39	HGF	3082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
DOID:10964	cholesteatoma of middle ear Aliases: Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma	HIF1A ICAM1 IL1A IL1R1 IL2 IL6 MMP1 MMP2 MMP9 RELA TLR2 TLR4 TNF TP53 VEGFA	3091 3383 3552 3554 3558 3569 4312 4313 4318 5970 7097 7099 7124 7157 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:8717	decubitus ulcer Aliases: Decubitus (pressure) ulcer Decubitus ulcer any site pressure sores pressure ulcer	HIF1A IL10 KDR VEGFA	3091 3586 3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:12510	retinal ischemia	HIF1A MMP9 PTGER4 THY1 VEGFA	3091 4318 5734 7070 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	HIF1A PFKM	3091 5213	Homo sapiens (human)	Alliance of Genome Resources
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	HIF1A PYGM	3091 5837	Homo sapiens (human)	Alliance of Genome Resources
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	HIF1A	3091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal Aliases: DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome	HIRA MED15 PI4KA PRODH2 SNAP29	51586 5297 58510 7290 9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070073	autosomal dominant intellectual developmental disorder 43 Aliases: MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43	HIVEP2	3097	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV	148738	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	HK1	3098	Homo sapiens (human)	Alliance of Genome Resources
DOID:525	central nervous system vasculitis	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:419	scleroderma Aliases: dermatosclerosis	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:1761	Melkersson-Rosenthal syndrome Aliases: Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Melkersson's syndrome	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080820	occupational asthma	HLA-B HLA-DOA HLA-DPB1 HLA-E	3106 3111 3115 3133	Homo sapiens (human)	Alliance of Genome Resources
DOID:3611	acute retinal necrosis syndrome Aliases: acute retinal necrosis	HLA-B IFNG	3106 3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:11265	trachoma Aliases: active stage trachoma trachoma dubium	HLA-B IL10 IL17A TNF	3106 3586 3605 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	HLA-B IL2	3106 3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:2703	synovitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources

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