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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 **3051 - 3075** of **4649** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ATRX DAXX PCSK1	1616 5122 546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060603	isolated anhidrosis with normal sweat glands Aliases: Dann-Epstein-Sohar syndrome	ITPR2	3709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110213	isolated cleft palate	SATB2	23314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111717	isolated cryptophthalmia Aliases: CRYPTOP unilateral or bilateral isolated cryptophthalmos	FREM2	341640	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	GHRHR	2692	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060872	isolated growth hormone deficiency type II Aliases: IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II	GH2	2689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	GH2 GHR GHRHR GHSR IGFALS TG	2689 2690 2692 2693 3483 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111371	isolated hyperchlorhidrosis Aliases: HYCHL carbonic anhydrase XII deficiency	CA12	771	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060837	isolated microphthalmia 5 Aliases: MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen	MFRP	83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	PRSS56	646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	GDF3	9573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060841	isolated microphthalmia 8 Aliases: MCOP8	ALDH1A3	220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060737	junctional epidermolysis bullosa Herlitz type Aliases: Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type	ITGA6 LAMB3 LAMC2	3655 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	COL17A1 ITGB4 LAMA3 LAMB3 LAMC2	1308 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	ITGA6 ITGB4	3655 3691	Homo sapiens (human)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	COL17A1 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2	1308 3655 3675 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:1068	juvenile glaucoma Aliases: Glaucoma of childhood	MYOC	4653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050458	juvenile myelomonocytic leukemia	AKAP12 ARHGAP26 CBL CSF2 FLT3 JAK3 KRAS NF1 PTPN11 PTPN6	1437 23092 2322 3718 3845 4763 5777 5781 867 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:4890	juvenile myoclonic epilepsy	BRD2	6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050787	juvenile polyposis syndrome	ACVR2A ACVR2B BMP2 BMP4 BMPR1A BMPR1B HIVEP1 HIVEP2 HIVEP3 SMAD4 SMAD5	3096 3097 4089 4090 59269 650 652 657 658 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111543	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Aliases: JP-HHT	SMAD4	4089	Homo sapiens (human)	Alliance of Genome Resources

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