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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **7801 - 7825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	LRPPRC	10128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112336	spermatogenic failure 56 Aliases: SPGF56	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	FOSL2 JUN JUNB JUND	2355 3725 3726 3727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	SYP	6855	Homo sapiens (human)	Alliance of Genome Resources
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ADIPOQ ANXA1 ANXA2 ANXA5 APOA1 APOA2 APOC3 BDH1 CAT CP CS CTSL CTSV GPX1 HLA-DQB1 IGF1R IL10 MCM7 NR1D1 PCSK1 PPARGC1A SERPINA7 SERPINE1 SLC34A1 SLC9A1 SOD1 TSHR UCP3 UGT1A1 VIM	10891 1356 1431 1514 1515 2876 301 302 308 3119 335 336 345 3480 3586 4176 5054 5122 54658 622 6548 6569 6647 6906 7253 7352 7431 847 9370 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Aliases: ALS17 (FORMERLY) AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia	CHMP2B	25978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060297	complement component 4a deficiency	C4A	720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111468	combined oxidative phosphorylation deficiency 25 Aliases: COXPD25	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070229	intrahepatic cholestasis of pregnancy 3 Aliases: ICP3 pregnancy related cholestasis 3	ABCB4	5244	Homo sapiens (human)	Alliance of Genome Resources
DOID:4762	vasculogenic impotence	ANGPT2 APOD PDE5A TGFBR2	285 347 7048 8654	Homo sapiens (human)	Alliance of Genome Resources
DOID:9266	cystinuria	SLC3A1	6519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:14095	boutonneuse fever Aliases: African tick typhus Rickettsia conorii spotted fever South African tick-bite fever kenya tick typhus marseilles fever	C3 CFB	629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081382	amyotrophic lateral sclerosis type 28	LRP12	29967	Homo sapiens (human)	Alliance of Genome Resources
DOID:9540	vascular skin disease	AGER	177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111836	congenital nongoitrous hypothyroidism 7 Aliases: CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome	TRHR	7201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112352	spermatogenic failure 58 Aliases: SPGF58	IFT74	80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081333	Wiedemann-Rautenstrauch syndrome Aliases: Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:10021	duodenum cancer Aliases: Duodenal cancer cancer of duodenum duodenal neoplasm	POLE	5426	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:12577	urethral obstruction Aliases: Obstruction of urethra	CYP19A1 NOS1 TGFB1	1588 4842 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111021	cone-rod dystrophy 15 Aliases: CORD15	CDHR1	92211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080494	ovarian dysgenesis 2	BMP15	9210	Homo sapiens (human)	Alliance of Genome Resources

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