GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4051 - 4075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	AIMP1	9255	Homo sapiens (human)	Alliance of Genome Resources
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	FGFR3 SLC2A3 TBC1D4	2261 6515 9882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060386	Chilblain lupus	SAMHD1	25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:14289	Ebstein anomaly Aliases: Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve	Bmpr1a	12166	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	Adrb2 Anxa5 Apoc3 Aqp3 Arsa Atp2a2 Bad Bdnf Col1a2 Col2a1 Cs Csl Dpysl2 Duox1 Entpd1 F7 Foxp3 Gpx1 Grk3 Gsn H2-Ab1 H2-Eb1 Ifng Il10 Il4 L1cam Lipc Map1a Map1b Mbp Mstn Myh6 Myh7 Ncam1 Ncoa1 Nefh Nefl Nefm Ngf Nos3 Nr1d1 Pam Pcna Pcsk1 Phka1 Plod1 Plod2 Plod3 Pnpla3 Reln Serpina7 Shh Slc26a5 Slc2a1 Slc34a1 Slc9a1 Sod1 Sod2 Tg Thbd Tomm70a Ucp2 Wnt3a	11555 116939 11747 11814 11828 11883 11938 12015 12064 12495 12824 12843 12934 12974 14068 140781 14775 14961 14969 15450 15978 16153 16189 16728 17196 17700 17754 17755 17888 17967 17977 18039 18040 18049 18127 18484 18538 18548 18679 18822 19699 20371 20423 20505 20525 20544 20655 20656 217166 21819 21824 22228 22416 227753 26432 26433 28185 320129 331535 380684 71832 80979 99439	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	Nct Psn	40260 42964	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	Opn1mw	89810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	dop-2 tbh-1	179347 181639	Caenorhabditis elegans	Alliance of Genome Resources
DOID:302	substance abuse	Adra2a Htr1a Htr1b Slc6a4	24473 25075 25083 25553	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	Elane	50701	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	zmp-3	178748	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111595	congenital contractural arachnodactyly Aliases: Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	fbn-1	176076	Caenorhabditis elegans	Alliance of Genome Resources
DOID:13141	uveitis	Acer Ance Spn28Dc Tl	34091 34189 34805 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	Mpz	24564	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	Jag1 Notch2	16449 18129	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9835	refractive error	FBN1 PRSS56	2200 646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	Hsc70-4 Snmp2	38868 41840	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110217	Leber congenital amaurosis 17 Aliases: LCA17	gdf6a gdf6b	30180 566470	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	STT3B	201595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	ALG6	854163	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111768	X-linked properdin deficiency Aliases: CFPD complement factor properdin deficiency	Cfp	18636	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3805	porokeratosis Aliases: disseminated superficial actinic porokeratosis	FDPS MVD MVK	2224 4597 4598	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	ace ngfb vegfaa	30682 565980 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	Bdnf Ccl2 Ccr5 Cd28 Cma1 Hgf Il1a Il1rn Il2 Il4r Mmp9 Ngf Serpine1 Sftpa1 Sftpb Sftpd Tgfb1	116562 117029 192155 24225 24446 24493 24617 24770 24773 25084 25350 25627 25660 310738 59086 60582 81687	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	PMP22	5376	Homo sapiens (human)	Alliance of Genome Resources

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