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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 **9301 - 9325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	Slc22a21 Slc22a5	20520 56517	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080442	developmental and epileptic encephalopathy 41 Aliases: DEE41 early infantile epileptic encephalopathy 41	Slc1a2	20511	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070093	schizophrenia 18 Aliases: Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060650	dicarboxylic aminoaciduria Aliases: glutamate-aspartate transport defect	Slc1a1	20510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	Slc1a1 Slc1a3 Slc1a4 Slc1a6 Slc1a7	20510 20512 20513 242607 55963	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050336	hypophosphatemia	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080758	Fanconi renotubular syndrome 2	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	EPHB4	2050	Homo sapiens (human)	Alliance of Genome Resources
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	EPHB4 LGMN	2050 5641	Homo sapiens (human)	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	DLL4 EPHB4 HES1 KDR NOTCH1 NOTCH4 PTEN	2050 3280 3791 4851 4855 54567 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112159	autosomal dominant nonsyndromic deafness 78 Aliases: DFNA78	Slc12a2	20496	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	Slc12a1	20495	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	Clcnkb Slc12a1	20495 56365	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2218	blood platelet disease Aliases: Thrombocytopathy platelet disorder	CD36 EPHB2 FLI1 GP6 ITGB3 TBXA2R TPM4	2048 2313 3690 51206 6915 7171 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	Ldb3 Rbfox2 Six4	20474 24131 93686	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080685	aortic dissection	ACTA1 EFEMP2 EPHB1 NONO SPP1	2047 30008 4841 58 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060395	chromosome 15q24 deletion syndrome Aliases: 15q24 microdeletion syndrome	Sin3a	20466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	20454	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	St3gal3	20441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	St3gal3	20441	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	Shh	20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111818	syndactyly type 4 Aliases: Haas type syndactyly SDTY4 polysyndactyly, Haas type	Shh	20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	Shh	20423	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	Shh	20423	Mus musculus (house mouse)	Alliance of Genome Resources

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