GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1026 - 1050** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	Fst	14313	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	Fstl1 Fut8 Itgb6 Jun Kl Ptma Smo Tlr4	14314 16420 16476 16591 19231 21898 319757 53618	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13949	interstitial cystitis Aliases: ulcerative cystitis	ADRB2 CSF1 NGF	1435 154 4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	CSF1R KIT SDHB SDHC SETD2 SLCO1B3 STIM1 TERT	1436 28234 29072 3815 6390 6391 6786 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	Fzd4	14366	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12120	pulmonary alveolar proteinosis	ABCA3 CSF2 CSF2RA CSF2RB SFTPB SFTPC	1437 1438 1439 21 6439 6440	Homo sapiens (human)	Alliance of Genome Resources
DOID:1227	neutropenia	AP3B1 C5 CSF2 CSF3 FCGR2A STAT2 TNF	1437 1440 2212 6773 7124 727 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050458	juvenile myelomonocytic leukemia	AKAP12 ARHGAP26 CBL CSF2 JAK3 NF1 PTPN11	1437 23092 3718 4763 5781 867 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	CSF2 HLA-DQA1 IL2RB LTA MBL2 SLC11A1 TNF	1437 3117 3560 4049 4153 6556 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6pc1	14377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13628	favism	G6pdx	14381	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	Gaa	14387	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050852	limb ischemia	CSF3 DLL4 EPO HGF NOS3 PTGIS	1440 2056 3082 4846 54567 5740	Homo sapiens (human)	Alliance of Genome Resources
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	ANGPT1 ANXA1 CSF3 HSPA1B MDK PGF PROZ SELE	1440 284 301 3304 4192 5228 6401 8858	Homo sapiens (human)	Alliance of Genome Resources
DOID:10247	pleurisy	CSF3 IL15 IL1RN SERPINE1	1440 3557 3600 5054	Homo sapiens (human)	Alliance of Genome Resources
DOID:874	bacterial pneumonia Aliases: Pneumonia due to other gram-negative bacteria gram-negative pneumonia	CSF3 MBL2 TNF	1440 4153 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	CLPTM1L CSF3 MMP1 MMP9 SERPINA1 SFTPC TGFB1	1440 4312 4318 5265 6440 7040 81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:12010	anterior ischemic optic neuropathy Aliases: Ischemic optic neuropathy	CSF3 NOS3	1440 4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:11450	allergic cutaneous vasculitis Aliases: Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis	CSF3	1440	Homo sapiens (human)	Alliance of Genome Resources
DOID:9478	postpartum depression Aliases: Maternity blues postnatal depression	Gabrd	14403	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	Gabrg1	14405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	Gabrg2 Scn1a Scn1b	14406 20265 20266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	ASXL1 CSF3R EZH2 TET2	1441 171023 2146 54790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050590	severe congenital neutropenia	CSF3R ELANE	1441 1991	Homo sapiens (human)	Alliance of Genome Resources

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