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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 **10701 - 10725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:10825	essential hypertension Aliases: idiopathic hypertension primary hypertension	fgfr2	352940	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:2339	Crouzon syndrome Aliases: Craniofacial Dysostosis	fgfr2	352940	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT	353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040086	Polyomavirus-associated nephropathy Aliases: PVAN polyomavirus associated nephropathy	Kir3dl1	353253	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	Slc29a3	353307	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13619	extrahepatic cholestasis Aliases: extrahepatic biliary Stasis extrahepatic obstructive biliary disease	Balat CarT Orct2 Orct l(2)03659 tor	35334 35717 36417 42890 42891 47905	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Balat CarT Mdr49 Mdr65 Orct2 Orct aralar1	35334 36417 36428 38726 42890 42891 43616	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	Y18H1A.11	353380	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	Y18H1A.11	353380	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	Mtp Octbeta2R	35362 41549	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1386	abetalipoproteinemia Aliases: familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease	Mtp	35362	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081135	agammaglobulinemia 2	IGLL1	3543	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	IGSF1	3547	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	sxc	35486	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	GDF5 IHH	3549 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050604	acrocapitofemoral dysplasia	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:13767	clonorchiasis Aliases: Oriental liver fluke disease	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:2475	chronic conjunctivitis	FAS LAMP2	355 3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	BAX FADD FAS LEP LPL	355 3952 4023 581 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111960	immunodeficiency 15A Aliases: IMD15A	IKBKB	3551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111959	immunodeficiency 15B Aliases: IMD15B	IKBKB	3551	Homo sapiens (human)	Alliance of Genome Resources
DOID:4371	Schnitzler syndrome	IL1A IL1RN	3552 3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:1002	endometritis	CASP6 CASP7 CASP9 IL1A	3552 839 840 842	Homo sapiens (human)	Alliance of Genome Resources

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