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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 **101 - 125** of **4649** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0110221	Brugada syndrome 4 Aliases: BRGDA4	CACNB2	783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110222	Brugada syndrome 5 Aliases: BRGDA5	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110223	Brugada syndrome 6 Aliases: BRGDA6	KCNE3	10008	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110224	Brugada syndrome 7 Aliases: BRGDA7	SCN3B	55800	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	HCN4	10021	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050451	Brugada syndrome Aliases: Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome	GSTM2	2946	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060693	Brunner Syndrome Aliases: monoamine oxidase A deficiency	MAOA	4128	Homo sapiens (human)	Alliance of Genome Resources
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	APOA1 F5	2153 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:8584	Burkitt lymphoma Aliases: Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type	BTK CALR CD40 CD79B MYC	4609 695 811 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080695	Burn-McKeown syndrome Aliases: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome	TXNL4A	10907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050456	Buruli ulcer disease Aliases: Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer	SLC11A1	6556	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	CD96	10225	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080205	CAKUT Aliases: Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation	BMP4 HSPA1B LIFR NRIP1	3304 3977 652 8204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080206	CAKUT1 Aliases: Congenital anomalies of the kidney and urinary tract 1	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	BMP4 MMP9 TIMP1	4318 652 7076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CD40LG	959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources

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