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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 **7476 - 7500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080333	aortic valve disease 1	ENPP1 IL6 NOTCH1	3569 4851 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:2229	factor XI deficiency Aliases: Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency	F11	2160	Homo sapiens (human)	Alliance of Genome Resources
DOID:11994	atrophy of testis	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111418	familial apolipoprotein C-II deficiency Aliases: C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib	APOC2	344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110709	hypotrichosis 12 Aliases: Hypt12	RPL21	6144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080598	Kleefstra syndrome 2	KMT2C KMT2D	58508 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly Aliases: SRPS5 SRTD7 short rib-polydactyly syndrome type V	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2 COQ9	27235 57017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111504	Li-Fraumeni syndrome 2 Aliases: LFS2	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	SCARF2	91179	Homo sapiens (human)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	PYGL	5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	FRAS1 FREM1 FREM2 GRIP1	158326 23426 341640 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	IL3 STAT4	3562 6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090094	hypogonadotropic hypogonadism 1 with or without anosmia Aliases: dysplasia olfactogenitalis of de morsier	ANOS1	3730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	4173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	AKR1C3 CARD11 CXCR4 JAK1 JAK3 NBN NUP98 PDGFRA	3716 3718 4683 4928 5156 7852 84433 8644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	CFC1 CFC1B HSPG2 MED13L SLC19A1	23389 3339 55997 653275 6573	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:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080016	spina bifida	APEX1 GLI1 GLI2 MTHFD1 MTR PTCH1 RNF2 SUZ12	23512 2735 2736 328 4522 4548 5727 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050567	orofacial cleft	ACSS2 CRISPLD2 LOXHD1 MYH9 SPECC1L	125336 23384 4627 55902 83716	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources

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