GlyCosmos Portal

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

Displaying entries **5551 - 5575** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AAAS HLA-DQA1 HLA-DQB1 VIPR1	3117 3119 7433 8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	Lmna Spry2	16905 24064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	LAS17	854353	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	Foxp3 Washc4	20371 319277	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9182	pemphigus	CAST CD36 CD40 HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2	3117 3119 3123 3558 831 948 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	B3GAT2 CTHRC1 FOXP1 GPX3 GPX7 MMP12 MMP1 MSR1	115908 135152 27086 2878 2882 4312 4321 4481	Homo sapiens (human)	Alliance of Genome Resources
DOID:9206	Barrett's esophagus Aliases: Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis	Ptgs2 Smo	25273 29527	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	Tacr1	24807	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9240	erythromelalgia Aliases: erythermalgia	SCN9A	6335	Homo sapiens (human)	Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	JAG1 NOTCH2	182 4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	Jag1	16449	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9246	cerebral amyloid angiopathy Aliases: Cerebral Hemorrhage, Hereditary, with Amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis	Itm2b	16432	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9246	cerebral amyloid angiopathy Aliases: Cerebral Hemorrhage, Hereditary, with Amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis	MME OLR1	4311 4973	Homo sapiens (human)	Alliance of Genome Resources
DOID:9248	Pallister-Hall syndrome	Gli3	14634	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9248	Pallister-Hall syndrome	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	CTH HMGCL PCCA PCCB PHGDH	1491 26227 3155 5095 5096	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	Kit	16590	Mus musculus (house mouse)	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:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	Trem2	83433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	CHMP2B GRN MAPT	25978 2896 4137	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	Stat3	20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9256	colorectal cancer	N	31293	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9256	colorectal cancer	ABL1 AKT1 ALX4 APC ARID2 ATM BAMBI BAX BCOR BRCA1 BUB1 BUB1B CASP9 CES1 CHD4 CHEK2 CTNNB1 CTNNBL1 CYP24A1 CYP2E1 DCC DDR2 DDX3X DICER1 DLC1 EGFR EP300 ERBB4 ERCC6 EZH2 F7 FAT1 FGFR3 FLCN GALNT12 GPX1 GRIN2A HFE HILPDA HLA-DQB1 HNF1A IKZF1 IL6 ITPKC JAK1 KDM6A KDR KRAS LRP1B MAP2K4 MAPK9 MKI67 MLH1 MSH2 MYD88 NRAS NTRK3 PDGFRL PIK3CA PIK3CD PLA2G2A POLE PTPN12 PTPN13 PTPRJ PTPRT RAC1 RBM10 RNF43 SEPTIN9 SETD2 SPOP SRC STIM1 TCF3 TGFB2 TGFBR1 TLR2 TNFAIP3 TP53 XPO1 XPO5 XRCC1 YTHDF1	10320 10395 1066 10801 1108 11122 11200 1499 1571 1591 1630 1654 1956 196528 201163 2033 2066 207 2074 2146 2155 2195 2261 23405 25 25805 2876 2903 29072 29923 3077 3119 324 3569 3716 3791 3845 4288 4292 4436 4615 472 4893 4916 4921 5157 5290 5293 5320 53353 5426 54880 54894 54915 5601 56259 57510 5782 5783 5795 581 5879 60529 6416 6714 672 6786 6927 6929 699 701 7042 7046 7097 7128 7157 7403 7514 7515 79695 80271 8241 8405 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:9256	colorectal cancer	ERS1	850438	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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