GlyCosmos Portal

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

Displaying entries **5876 - 5900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ANAPC1 RECQL4	64682 9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:8691	mycosis fungoides Aliases: mycosis fungoides lymphoma	CLU HIF1A HLA-DQB1 SOD2	1191 3091 3119 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome Aliases: MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35	THO2	855583	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:12732	intermediate uveitis Aliases: chronic cyclitis peripheral uveoretinitis	Il10 Tnf	24835 25325	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	SNRNP200	23020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111870	nonphotosensitive trichothiodystrophy 7 Aliases: TTD7	Tars1	110960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2377	multiple sclerosis Aliases: Generalized multiple sclerosis insular sclerosis	b4galt5.L b4galt5.S b4galt6.L b4galt6.S	108695277 108702589 446703 779435	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081207	autosomal recessive intellectual developmental disorder 43	Washc4	319277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	Notch2	18129	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	ABAT ACHE AGTR1 APOA4 ATF2 BAX BCHE BDNF CASP9 CAT CNR2 CREB1 CREBBP CTSH DNAJB2 DRD1 E2F1 EIF2AK2 ELK1 F2 FAS FASLG FKBP11 FOXP1 GIT1 GLUL GPX1 GPX6 GRIK2 GRIN2A GRIN2B HSF1 HTT IL6 IL6R ITPR1 LCP1 LEP MAP2 MBP MMP9 MTNR1A NCOR1 ND3 NFE2L2 NGFR NOG NOS3 NPY2R NRF1 OPTN PACSIN2 PARP1 PLS1 PLS3 PPARD PPARGC1A PPP1R9A PRKAA1 PTGS2 QPRT RRS1 SETDB1 SIN3A SIRT1 SLC18A3 SLC1A2 SRSF6 SYNE3 TBP TFAM TRIP10 UCP2 WIPI1 WIPI2 YBX2 ZDHHC13	10133 10891 11252 1269 1385 1386 1387 142 1512 161176 18 1812 185 1869 2002 2147 23212 23411 23475 257202 25942 26100 27086 2752 2876 28964 2898 2903 2904 3064 3297 3300 337 355 356 3569 3570 3708 3936 3952 4133 4155 43 4318 4537 4543 4780 4804 4846 4887 4899 51087 51303 5357 5358 54503 5467 55062 55607 5562 5610 5743 581 590 627 6431 6506 6572 6908 7019 7351 842 847 9241 9322 9611 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	Ppp1cb	25594	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14 Aliases: DHMN7B HMN VIIB HMN7B Harper-Young myopathy distal hereditary motor neuronopathy type 7B distal hereditary motor neuropathy type VIIB distal spinal muscular atrophy with vocal cord paralysis type 7B	DCTN1	1639	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	cri-2 timp-1 ver-4	179197 179199 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080090	reducing body myopathy 1A	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090145	dopamine beta-hydroxylase deficiency Aliases: congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency	DAT Tbh	31718 36849	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	Itgb4	25724	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110021	age related macular degeneration 9 Aliases: ARMD9	C3	24232	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	alg13l	549862	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4186	articulation disorder Aliases: Articulation impairment Phonological disorder	Nrx-IV	39387	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:114	heart disease	kcnk16	100496127	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	cho-1	178274	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110034	X-linked Alport syndrome Aliases: nephropathy and deafness, X-linked	let-2	181708	Caenorhabditis elegans	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	C49C8.5 W01F3.2 Y43C5A.2 pat-2 pkd-2 zmp-3 zmp-4	176240 177668 177911 178424 178748 179991 180351	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources

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