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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 **2976 - 3000** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0112251	Ghosal hematodiaphyseal syndrome Aliases: Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome	TBXAS1	6916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112259	Leydig cell hypoplasia Aliases: 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	KIRREL1	55243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112271	spermatogenic failure 49 Aliases: SPGF98	CFAP58	159686	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112274	X-linked spermatogenic failure 3 Aliases: SPGFX3	CFAP47	286464	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112277	immunodeficiency 79 Aliases: IMD79	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type Aliases: SED with elevated blood lysosomal enzymes SEDKF	MBTPS1	8720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112295	spondylometaphyseal dysplasia	ACP5	54	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112297	spondylometaphyseal dysplasia corner fracture type Aliases: SMDCF spondylometaphyseal dysplasia Sutcliffe type	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112306	Mahvash Disease Aliases: GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor	GCGR	2642	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112307	sarcosinemia Aliases: SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency	SARDH	1757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112310	central precocious puberty 1 Aliases: CPPB1	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112311	male infertility due to acephalic spermatozoa	CNTROB	116840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112312	male infertility due to globozoospermia Aliases: globozoospermia syndrome	HSP90B1	7184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112313	brain small vessel disease	FGA FGG NR1D1 SELP THBD	2243 2266 6403 7056 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112314	brain small vessel disease 2 Aliases: BSVD2 porencephaly 2	COL4A2	1284	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112318	Schindler disease type 1 Aliases: NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1	NAGA	4668	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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