GlyCosmos Portal

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

Displaying entries **351 - 375** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:11400	pyelonephritis	ACE AMBP B2M BMP7 CALCA CFB CXCR1 IL1RN IL3 PGF TLR1	1636 259 3557 3562 3577 5228 567 629 655 7096 796	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090045	childhood onset GLUT1 deficiency syndrome 2	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:2297	leptospirosis Aliases: Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice	ACHE BCHE F2 MBL2	2147 4153 43 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	COLEC11	78989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070409	autosomal recessive spinocerebellar ataxia 28 Aliases: SCAR28	THG1L	54974	Homo sapiens (human)	Alliance of Genome Resources
DOID:2725	capillary hemangioma Aliases: Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy	CCN1	3491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	DVL3	1857	Homo sapiens (human)	Alliance of Genome Resources
DOID:12030	panuveitis Aliases: Diffuse uveitis	CFH IFNG IL10	3075 3458 3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060823	syndromic X-linked intellectual disability 94 Aliases: MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type	GRIA3	2892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050920	tonsil squamous cell carcinoma	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	GLRA1	2741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:10247	pleurisy	ALOX5 ANXA1 BDKRB1 BDKRB2 CCL11 CSF3 ELANE ESR1 ICAM1 IL15 IL17A IL1RN NOS2 PLA2G6 PTAFR PTGS2 SERPINE1 TNF	1440 1991 2099 240 301 3383 3557 3600 3605 4843 5054 5724 5743 623 624 6356 7124 8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060668	anencephaly	EFNA5 NUAK2 RPGRIP1L	1946 23322 81788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110098	atopic dermatitis 2 Aliases: ATOD2	FLG	2312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 AQP1 ARL3 BICC1 C3 CD14 CDC25A CFTR CYP4A11 CYP4A22 ELN GPBAR1 MTOR NEK1 PANX1 PIK3CA PKD1 PKHD1 SLC4A2 TMEM67 TSC1	1080 151306 1579 1636 2006 207 24145 2475 284541 358 403 4750 5290 5310 5314 6522 718 7248 80114 91147 929 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	FBN1 FBN2 FBN3 LTF SNRPA1 SNRPA SNRPB2 SNRPC SNRPD1	2200 2201 4057 6626 6627 6629 6631 6632 84467	Homo sapiens (human)	Alliance of Genome Resources
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	TLR4 TLR9	54106 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:14502	cholesterol ester storage disease Aliases: CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency	LIPA	3988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112312	male infertility due to globozoospermia Aliases: globozoospermia syndrome	HSP90B1	7184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110110	atrial heart septal defect 5 Aliases: ASD5 atrial septal defect 5	ACTC1	70	Homo sapiens (human)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CLOCK GHRHR IGF1R INSR INSRR NF1 NPSR1 TFAP2B	2692 3480 3643 3645 387129 4763 7021 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110255	cataract 5 multiple types Aliases: CTRCT5	HSF4	3299	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050474	Netherton syndrome	GBA1	2629	Homo sapiens (human)	Alliance of Genome Resources

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