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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 **12351 - 12375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	CLCN3 CLCN5 CSF1 GHR LRRK1 MITF PLEKHM1 SLC4A2	1182 1184 1435 2690 4286 6522 79705 9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111312	idiopathic generalized epilepsy 11 Aliases: EIG11	CLCN2	1181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080330	cold-induced sweating syndrome 2	CLCF1	23529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110355	retinitis pigmentosa 32 Aliases: RP32	CLCC1	23155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	CKAP2L	150468	Homo sapiens (human)	Alliance of Genome Resources
DOID:11984	hypertrophic cardiomyopathy Aliases: hypertrophic obstructive cardiomyopathy	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050852	limb ischemia	CIT1 CIT2 CIT3	850361 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	CIT1 CIT2 CIT3 YBT1	850361 850678 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	CIT1 CIT2 CIT3 KEX2 VVS1	850361 852543 855483 855732 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:6000	congestive heart failure Aliases: CHF Cardiac Failure Congestive Congestive heart disease Weak heart	CIT1 CIT2 CIT3 CTS2 GIT1 GLC7 HSF1 MDH1 MDH2 MDH3 PEP4 VVS1 YLR001C	850361 850462 850687 851481 851977 852543 852806 853777 853994 855732 855949 856107 856870	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070288	primary autosomal recessive microcephaly 17 Aliases: MCPH17	CIT	11113	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070297	primary microcephaly Aliases: true microcephaly	CIT KNL1	11113 57082	Homo sapiens (human)	Alliance of Genome Resources
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	CIITA	4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	CIITA CLEC16A HLA-DQB1 HLA-DRB1	23274 3119 3123 4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	CIC	23152	Homo sapiens (human)	Alliance of Genome Resources
DOID:150	disease of mental health	CIC GNPAT SNRNP70 STX1A	23152 6625 6804 8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060647	fetal encasement syndrome Aliases: cocoon syndrome	CHUK	1147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1	22856	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	CHST6	4166	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome Aliases: multiple pterygium syndrome	CHRNG	1146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110678	congenital myasthenic syndrome 4A Aliases: CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources

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