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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 **4151 - 4175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080633	developmental cardiac valvular defect	MTHFD1 PLD1 PLD2	4522 5337 5338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110840	Usher syndrome type 2D Aliases: USH2D Usher syndrome type IID	WHRN	25861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060756	sclerosteosis 1 Aliases: SOST1	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ADIPOQ CTLA4 DNASE1 F2 FAS HLA-DPB1 HLA-DQB1 HLA-DRB1 HRAS IL21 IL2 IL4 KIR2DL2 PDCD1 PDIA3 STAT4 TNF VEGFA ZFHX3	1493 1773 2147 2923 3115 3119 3123 3265 355 3558 3565 3803 463 5133 59067 6775 7124 7422 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Aliases: NEDAMSS	IRF2BP1 IRF2BP2 IRF2BPL	26145 359948 64207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110371	retinitis pigmentosa 56 Aliases: RP56	IMPG2	50939	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:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	LHB	3972	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070208	hereditary lymphedema IC Aliases: LMPH1C	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	EFEMP1	2202	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1	COL1A1	1277	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070182	spermatogenic failure 13 Aliases: SPGF13	TAF4B	6875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2 Aliases: AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3GAT2 BMP4 CTHRC1 FAS FOXP1 GPX3 GPX7 IGFBP3 MKI67 MMP12 MMP1 MSR1 MUC2 PTGES PTGS2 SMO	115908 135152 27086 2878 2882 3486 355 4288 4312 4321 4481 4583 5743 652 6608 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111149	autosomal recessive isolated ectopia lentis 2 Aliases: ECTOL2	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111129	focal segmental glomerulosclerosis 2 Aliases: FSGS2	TRPC6	7225	Homo sapiens (human)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	BMP4 GATA4 SOS1 TBX2	2626 652 6654 6909	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111396	congenital dyserythropoietic anemia type I Aliases: CDA I CDA type 1 CDA type I Congenital dyserythropoietic anaemia type 1 Congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anaemia type I	CDAN1	146059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:9383	iridocyclitis Aliases: primary iridocyclitis	CTLA4 HLA-DQB1 ICAM1 IL1A	1493 3119 3383 3552	Homo sapiens (human)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	ESR1 MLH1 PHB1 PTEN	2099 4292 5245 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111598	distal arthrogryposis type 1B Aliases: DA1B	MYBPC1	4604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	CACNA1A CACNA1H CACNG2 GABRB3 GABRG2 GLUD1 GLUD2 GRIK1 HCN1 HTR7 LGI4 MMP9 NPY1R NPY2R NPY5R SLC2A1 YWHAZ	10369 163175 2562 2566 2746 2747 2897 3363 348980 4318 4886 4887 4889 6513 7534 773 8912	Homo sapiens (human)	Alliance of Genome Resources

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