GlyCosmos Portal

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

Displaying entries **12451 - 12475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	Ace Dop1R1 Parp1 Sin3A Tre1 VAChT	140439 3355109 36382 41625 41726 42795	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	Lama5	140433	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2975	cystic kidney disease Aliases: renal Cyst	Lama5 Robo1	140433 58946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	jag1a	140421	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	jag1a	140421	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	jag1a	140421	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	fgf8b jag1a popdc1	140421 415107 65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	fgfr1a ins jag1a ngfb	140421 30262 30705 58133	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	gdf3 jag1a notch1a tll1 vegfaa	140421 30125 30682 30718 474335	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	cs dlb dlc dsc2l dsg2.1 fkrp gdf3 jag1a orai1b	140421 30120 30125 30141 322339 402892 560026 560091 571426	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	Ext1 Ext2 Extl1 Extl3	14042 14043 54616 56219	Mus musculus (house mouse)	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	14030 233908	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	Bace2 Ewsr1 Fus Grn Map4 Mapt Nefl Trem2 Ubqln2 Ubqln4	14030 14824 17758 17762 18039 233908 54609 56175 83433 94232	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111640	autosomal recessive nonsyndromic deafness 111 Aliases: DFNB111 autosomal recessive deafness 111	Mpzl2	14012	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080504	Parkinson's disease 22 Aliases: autosomal dominant Parkinson's disease 22	Chchd2	14004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081356	spinal muscular atrophy, Jokela type	Chchd2	14004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060214	frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Aliases: FTDALS2	Chchd2	14004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4159	skin cancer Aliases: CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer	ANXA7 CRKL MRE11 SNAI1 SRSF6	1399 310 4361 6431 6615	Homo sapiens (human)	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	CALR CRKL EFNB2 FLT3LG FOXA1 HLA-DQA1 IGF2R KMT2D PRF1 SLCO1B3 SRC TGFB1 TGFB2 TLR3 TNFRSF17 TNFRSF1A TNFRSF1B TYMS UBA52 VEGFA	1399 1948 2323 28234 3117 3169 3482 5551 608 6714 7040 7042 7098 7132 7133 7298 7311 7422 8085 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ALDH1A2 CHRD CRKL DICER1 DOCK1 DVL1 ESS2 FGF8 HOXA3 KAT6A NDST1 PLXND1 TGFBR2 UFD1 VEGFA	1399 1793 1855 2253 23129 23405 3200 3340 7048 7353 7422 7994 8220 8646 8854	Homo sapiens (human)	Alliance of Genome Resources
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	CHRD CRKL EDNRA ESS2 PRICKLE1 UFD1	1399 144165 1909 7353 8220 8646	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080500	ovarian dysgenesis 8	Esr2	13983	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	Efemp1 Esr2 Ncam1	13983 17967 216616	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8029	sporadic breast cancer	Esr1 Mlh1 Phb1	13982 17350 18673	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:326	ischemia	ABAT ADNP AKT2 ANGPT2 ANXA1 CALCA CCL2 CRHR2 CX3CL1 DLL4 HTR1B ITGAV LIPC LONP1 MMP14 MUC13 MUC2 PRKCA PTGES PTK2 SCNN1A SCNN1B SCNN1D SCNN1G SF1 THBD TNFRSF1A TP53	1395 18 208 23394 285 301 3351 3685 3990 4323 4583 54567 5578 56667 5747 6337 6338 6339 6340 6347 6376 7056 7132 7157 7536 796 9361 9536	Homo sapiens (human)	Alliance of Genome Resources

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