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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 **8676 - 8700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2859	hemoglobin C disease Aliases: Hb-C disease	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	ADAR BAX BIRC2 CCR4 CD82 CSF1R FGF7 FGFR3 FOS PDPN TMBIM6 TNFRSF4 TNFSF4 TP53 TYMP	103 10630 1233 1436 1890 2252 2261 2353 329 3732 581 7009 7157 7292 7293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080289	orofaciodigital syndrome XVII	INTU	27152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090031	D-bifunctional protein deficiency	HSD17B4	3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111735	X-linked deafness 4 Aliases: DFN6 DFNX4 X-linked progressive deafness 6 nonsyndromic sensorineural progressive deafness 6	SMPX	23676	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	NGLY1	55768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112026	non-syndromic X-linked intellectual disability 99 Aliases: MRX99 X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060564	spinal disease	FLNB TSC1	2317 7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080930	primary localized cutaneous amyloidosis 1 Aliases: familial primary localized cutaneous amyloidosis-1	OSMR	9180	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111999	immunodeficiency 61 Aliases: IMD61	SH3KBP1	30011	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111948	immunodeficiency 46 Aliases: CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081330	glycogen storage disease Ib	SLC37A4	2542	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081242	autoimmune interstitial lung, joint, and kidney disease Aliases: Autoimmune interstitial lung disease-arthritis syndrome COPA syndrome	COPA	1314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111952	immunodeficiency 57 Aliases: IMD57 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome immunodeficiency 57 with autoinflammation	RIPK1	8737	Homo sapiens (human)	Alliance of Genome Resources
DOID:10126	keratoconus Aliases: conical cornea	BDNF BMP4 FGA HGF IL1A IL1RN KERA MMP2 PON1	11081 2243 3082 3552 3557 4313 5444 627 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	ACOX2	8309	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081216	autosomal recessive intellectual developmental disorder 54	TNIK	23043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	SPTLC1 SPTLC2 SPTLC3	10558 55304 9517	Homo sapiens (human)	Alliance of Genome Resources
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	NOSIP PGAP1 PIGN PLCH1 PTCH1 SHH TGIF1 ZIC4	23007 23556 51070 5727 6469 7050 80055 84107	Homo sapiens (human)	Alliance of Genome Resources
DOID:4033	bacterial gastritis	TREM1	54210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	MVK TNF	4598 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	B2M CD70 FAS KIR3DS1 KLRK1 NCR1 SLC11A1 STAT3	22914 355 3813 567 6556 6774 9437 970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110315	hypertrophic cardiomyopathy 9 Aliases: CMH9 cardiomyopathy, familial hypertrophic, 9	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	CBX2	84733	Homo sapiens (human)	Alliance of Genome Resources

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