GlyCosmos Portal

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

Displaying entries **4476 - 4500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	sli	36746	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111945	immunodeficiency 31A Aliases: IMD31A MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency autosomal dominant immunodeficiency 31A, mycobacteriosis	STAT1	6772	Homo sapiens (human)	Alliance of Genome Resources
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 CAMK2A CAMK2B CAMK2D CAMK2G ETNK1 ETNK2 KCNH2 KCNH6 KCNH7 KCNK10 KCNK17 KCNK18 KCNK2 KCNK4 KCNK5 KCNK7 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNU1 MME MMEL1 PHEX PYGO2 SLC6A2 SREBF1 SREBF2	10089 157855 338567 3757 3776 3778 3785 3786 4311 50801 5251 54207 55224 55500 55799 56479 6530 6720 6721 79258 81033 815 816 817 818 8645 89822 90134 90780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	TACR3	6870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	Crppa	75847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3275	thymoma	Aqp4	11829	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080089	tubular aggregate myopathy 1	Stim	32556	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	akt2.L akt2.S epor.L igf1r.S pdgfa.S slc44a1.L	379783 397765 398022 432172 432345 734211	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111867	nonphotosensitive trichothiodystrophy	TARS1 TARS2 TARS3	123283 6897 80222	Homo sapiens (human)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	STE13	854394	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	ABCG2 ALAS1 CLPX UROS	10845 211 7390 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	Atp6v0a1 Atp6v0a2 Atp6v1b2 Ctsb Rhag Rhbg Rhcg Rhd Slc4a1 Slc4a4	11966 11975 13030 19743 19746 20533 21871 54403 56315 58176	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11 Aliases: MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11	b3galnt2	496641	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	vegfaa	30682	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4890	juvenile myoclonic epilepsy	fs(1)h	31722	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	Mecp2	29386	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11111	hydronephrosis	Agt Havcr1 Lcn2 Timd2	170496 24179 286934 287222	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080464	developmental and epileptic encephalopathy 53 Aliases: DEE53 early infantile epileptic encephalopathy 53	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	b3galt6	548849	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	R193.2	182256	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	abo.2 abo.3 abo.4 abo	100497509 549437 549858 550054	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050679	blue cone monochromacy	Opn1mw	89810	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	Ttr	22139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	Abcg2 Havcr1 Ins1 Ins2 Lcn2 Slc22a2 Slc2a9 Stat3 Timd2	117591 16333 16334 16819 171283 171284 20518 20848 26357	Mus musculus (house mouse)	Alliance of Genome Resources

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