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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 **6526 - 6550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080144	childhood acute lymphocytic leukemia Aliases: Childhood Acute Lymphoblastic Leukemia	CTCF	10664	Homo sapiens (human)	Alliance of Genome Resources
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources
DOID:4079	heart valve disease Aliases: Valvular heart disease	ACE COL1A2 GALNT1 HTR2B LRP5 MMP2 MMP9 TNF	1278 1636 2589 3357 4041 4313 4318 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	BMP1	649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110398	retinitis pigmentosa 51 Aliases: RP51	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	CD14 CTLA4 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICOS IFNG IL10 IL21 IL23R IL6 PON1 PON3	149233 1493 2147 29851 3117 3119 3123 3458 3569 3586 5444 5446 59067 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Aliases: CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD	CDK13	8621	Homo sapiens (human)	Alliance of Genome Resources
DOID:2942	bronchiolitis	ADRB2 CCL11 CD40 IL17A IL1RN MUC5B	154 3557 3605 6356 727897 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:11759	hypochromic anemia Aliases: ANEMIA HYPOCHROMIC	SLC11A2	4891	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	CASK	8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:10762	portal hypertension	ALOX5 ANGPT2 AVP AVPR1A BDKRB2 CCL2 CPEB1 CPEB4 CX3CL1 DBH EDN1 EDNRA EDNRB F5 FGFR2 HSP90AA1 MTOR NGFR NOS1 NOS3 NR1D1 PRL PTEN PTGS2 REN SERPINF1 TMEM67 TNF VASH1 VEGFA	1621 1906 1909 1910 2153 2263 22846 240 2475 285 3320 4804 4842 4846 5176 551 552 5617 5728 5743 5972 624 6347 6376 64506 7124 7422 80315 91147 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Aliases: FTDALS3	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ANLN	54443	Homo sapiens (human)	Alliance of Genome Resources
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111448	progressive myoclonus epilepsy 1B Aliases: EPM1B	PRICKLE1	144165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110544	autosomal dominant nonsyndromic deafness 12 Aliases: DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081371	lacrimoauriculodentodigital syndrome 2 Aliases: Lacrimo-auriculo-dento-digital syndrome 2	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:10376	amblyopia Aliases: lazy eye	ERBB2 ERBB3 ERBB4 NRG1 PPARGC1A	10891 2064 2065 2066 3084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050117	disease by infectious agent Aliases: infectious disease	ERCC5 MBL2 SERPIND1	2073 3053 4153	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060752	familial temporal lobe epilepsy 5 Aliases: ETL5	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	SCN3A	6328	Homo sapiens (human)	Alliance of Genome Resources
DOID:2320	obstructive lung disease Aliases: respiratory airway obstruction	A2M MMP1	2 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050593	primary congenital glaucoma	CDK7	1022	Homo sapiens (human)	Alliance of Genome Resources

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