GlyCosmos Portal

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

Displaying entries **351 - 375** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060074	ductal carcinoma in situ	AKR1C3 ANXA1 AR AREG BRCA1 BRCA2 CASP6 ERBB2 ERBB3 ERBB4 FLT1 HIF1A KLK10 MMP2 MMP9 NOTCH4 PAK2 PGR PRKCA PTGES PTGS2 PTK2 RB1 RELA SOCS3 SRC ST14 STAT5A TERT TFF1 TOP2A TP53 TYMP VEGFA	1890 2064 2065 2066 2321 301 3091 367 374 4313 4318 4855 5062 5241 5578 5655 5743 5747 5925 5970 6714 672 675 6768 6776 7015 7031 7153 7157 7422 839 8644 9021 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060075	estrogen-receptor positive breast cancer	ADAM28 PIK3CA	10863 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060081	triple-receptor negative breast cancer	ANTXR1 BARHL1 KDM6A	56751 7403 84168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060108	brain glioma Aliases: lower grade glioma	BAX FADD FAS FASLG FOXA1 GAPDH KDR PTPRB VEGFA XRCC1	2597 3169 355 356 3791 5787 581 7422 7515 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060131	alexithymia	SLC6A4	6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060158	acquired metabolic disease	IGF2BP1 IGF2BP3 PNPLA2 PNPLA3	10642 10643 57104 80339	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR GDNF	2668 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ATN1 RERE	1822 473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	GABRG2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A SLC32A1	11280 140679 2566 6323 6324 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	CACNA1C CACNA1D CACNA1F CACNA1S	775 776 778 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH5A1	7915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	ATP1A1 ATP1A2 CACNA1A	476 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	PQBP1	10084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060180	colitis	ADIPOQ ADRB3 ANXA1 APOA4 ARRB1 BMP6 CAT CCKBR CCL2 CCR1 CD40 CHUK CRHR2 CXCR2 HAVCR1 HLA-B HP HPR ICAM1 ICOS IKBKB IL10 IL17A KDR LCT MIF MSH2 MUC2 NOD2 NOS2 NOS3 NTRK1 NTRK2 PPARGC1A PTGS2 RELA SELL SELP SI TACR1 TACR2 TFF1 TLR3 TLR4 VCAM1	10891 1147 1230 1395 155 26762 29851 301 3106 3240 3250 337 3383 3551 3579 3586 3605 3791 3938 408 4282 4436 4583 4843 4846 4914 4915 5743 5970 6347 6402 6403 64127 6476 654 6865 6869 7031 7098 7099 7412 847 887 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	SERPINE1 VEGFA	5054 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060186	chemical colitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060189	ileitis Aliases: Crohn's ileitis	IL17A SERPINA1 TLR2 TLR4	3605 5265 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	DCTN1 NEFH PRPH SNCG SOD1 SOD2 VEGFA	1639 4744 5630 6623 6647 6648 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	SETX	23064	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060197	amyotrophic lateral sclerosis type 5 Aliases: ALS5 amyotrophic lateral sclerosis 5	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	EWSR1 FUS	2130 2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060201	amyotrophic lateral sclerosis type 10 Aliases: ALS10 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia	TARDBP	23435	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060202	amyotrophic lateral sclerosis type 11 Aliases: ALS11 amyotrophic lateral sclerosis 11	FIG4	9896	Homo sapiens (human)	Alliance of Genome Resources

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