GlyCosmos Portal

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

Displaying entries **11926 - 11950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080465	developmental and epileptic encephalopathy 30 Aliases: DEE30 early infantile epileptic encephalopathy 30	SIK1	150094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080346	blepharocheilodontic syndrome 2	CTNND1	1500	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA PPARG	150 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:302	substance abuse	ADRA2A DRD4 HTR1A HTR1B NRG1 SLC6A4	150 1815 3084 3350 3351 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080264	exudative vitreoretinopathy 7 Aliases: EVR7	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070049	autosomal dominant intellectual developmental disorder 19 Aliases: MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111535	progressive osseous heteroplasia Aliases: POH ectopic ossification familial type familial ectopic ossification osteoma cutis	BMP4 CTNNB1 GNAS SPARC SPP1	1499 2778 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	AMH CTNNB1 FSHR KIT LHCGR MGMT PTGS2 ST14 VEGFA	1499 2492 268 3815 3973 4255 5743 6768 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	APC BRCA2 CTNNB1 GPR161 IFNG KDM4C PDGFRA PTCH1 PTCH2 SMO TP53 TSC2	1499 23081 23432 324 3458 5156 5727 6608 675 7157 7249 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:5015	fibrolamellar carcinoma Aliases: Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor	CA12 CTNNB1 FGFR1	1499 2260 771	Homo sapiens (human)	Alliance of Genome Resources
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	BMP4 CTNNB1 ERBB2 GPX1 SPARC SPP1	1499 2064 2876 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	BAX CTNNB1 NME1 NME2 PGM1 PGM3 TERT TYMP WNT2B	1499 1890 4830 4831 5236 5238 581 7015 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:687	hepatoblastoma	APOA1 CDH1 CLDN1 CTNNB1 DPEP1 FAS GPC3 MKI67 SALL1 SALL4 SMO SPOP ZFHX3	1499 1800 2719 335 355 4288 463 57167 6299 6608 8405 9076 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	AFP CTNNB1 FGF8 SALL4 WNT2B	1499 174 2253 57167 7482	Homo sapiens (human)	Alliance of Genome Resources
DOID:1064	cystinosis Aliases: cystine storage disease	CTNS	1497	Homo sapiens (human)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	CTNS LRP2 SLC34A1	1497 4036 6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:1395	schistosomiasis	H2-Eb1	14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13404	uveoparotid fever Aliases: Heerfordt's syndrome	H2-Eb1	14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12029	sympathetic ophthalmia Aliases: Sympathetic uveitis	H2-Eb1	14969	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1024	leprosy	H2-Eb1 Il17a Lta Slc11a1 Tlr1 Tlr2 Tnf	14969 16171 16992 18173 21897 21926 24088	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12662	paracoccidioidomycosis Aliases: Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis	Cfb H2-Eb1 Il1rl1 Tnf	14962 14969 17082 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12987	agranulocytosis Aliases: Granulocytopenic disorder Granulopenia granulocytopenia	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0040091	autoimmune pancreatitis	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1019	osteomyelitis	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources

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