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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 **9651 - 9675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	Pparg	19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5410	pulmonary neuroendocrine tumor	rnst-2	190096	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081007	RNASET2-deficient cystic leukoencephalopathy Aliases: cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy	rnst-2	190096	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080461	developmental and epileptic encephalopathy 26 Aliases: DEE26 early infantile epileptic encephalopathy 26	kvs-4	190011	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080957	primary hypoalphalipoproteinemia 1 Aliases: familial HDL deficiency familial hypoalphalipoproteinemia	ABCA1	19	Homo sapiens (human)	Alliance of Genome Resources
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	ABCA1	19	Homo sapiens (human)	Alliance of Genome Resources
DOID:1387	hypolipoproteinemia Aliases: Hypolipoproteinaemia	ABCA1 APOA1	19 335	Homo sapiens (human)	Alliance of Genome Resources
DOID:10787	premature menopause Aliases: Menopause - premature Menopause praecox	ABCA1 HMGCR	19 3156	Homo sapiens (human)	Alliance of Genome Resources
DOID:10230	aortic atherosclerosis Aliases: Atherosclerosis of aorta	ABCA1 APOE CAPN1 EDN1 LDLR	19 1906 348 3949 823	Homo sapiens (human)	Alliance of Genome Resources
DOID:2914	immune system disease	Pou2f1	18986	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080925	cytochrome P450 oxidoreductase deficiency	Por	18984	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis Aliases: trapezoidocephaly-synostosis syndrome	Por	18984	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	Por Ren1	18984 19701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080771	beta-thalassemia major Aliases: Cooley's anemia	Pon1	18979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	Pon1	18979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	epg-6	189705	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	EDA	1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	BMP2 BMP4 EDA GREM2 LRP6 TSPEAR WNT10A WNT10B	1896 4040 54084 64388 650 652 7480 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:5744	ovary serous adenocarcinoma Aliases: malignant ovarian serous tumor serous carcinoma of Ovary	zig-11	189580	Caenorhabditis elegans	Alliance of Genome Resources
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	Pnp	18950	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:653	purine-pyrimidine metabolic disorder Aliases: inborn errors of purine-pyrimidine metabolism	Dpys Pnp Umps	18950 22247 64705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	slc-46A	189356	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	Prrx1 Trappc10	18933 216131	Mus musculus (house mouse)	Alliance of Genome Resources

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