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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 **5076 - 5100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	ugt1a7 ugt1ab	100384891 406731	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111407	Fraser syndrome 2 Aliases: FRASRS2	Frem2	242022	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type Aliases: MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111982	immunodeficiency 56 Aliases: IL21R immunodeficiency IMD56 combined immunodeficiency due to IL21R deficiency	Il21r	60504	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14067	Plasmodium falciparum malaria Aliases: Malaria fever, subtertian falciparum malaria malignant tertian fever	abo.2.L abo.3.L abo.4.L	108698211 108698863 495825	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111588	Greenberg dysplasia Aliases: GRBGD Greenberg skeletal dysplasia HEM dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome	Lbr	98386	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14737	craniofrontonasal syndrome Aliases: CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia	efnb1.L	394292	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110581	autosomal dominant nonsyndromic deafness 56 Aliases: DFNA56 autosomal dominant deafness 56	TNC	3371	Homo sapiens (human)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	ABO BDNF C3 CCL5 CCR5 CCR7 CFTR CHI3L1 CXCR3 DEFB1 EGR1 HLA-DRB1 IL15 IL18R1 IL1RN LTA MUC1 NGF NOD2 NOS2 NR3C1 NTF3 NTRK1 SFTPA1 TGFB1 TLR2 TNC TNF TNFRSF1B	1080 1116 1234 1236 1672 1958 28 2833 2908 3123 3371 3557 3600 4049 4582 4803 4843 4908 4914 627 6352 64127 653509 7040 7097 7124 7133 718 8809	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type Aliases: SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia	Gpx4	625249	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13139	crescentic glomerulonephritis	Jra	36057	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3083	chronic obstructive pulmonary disease Aliases: COLD COPD chronic obstructive airway disease chronic obstructive lung disease	CTS2 NFT1 PBS2	851977 853313 853978	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050083	Keshan disease	gpx-3 gpx-5	181178 182513	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111545	familial male-limited precocious puberty Aliases: FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis	Lhcgr	25477	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13078	eumycotic mycetoma Aliases: Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis	comta comtb	561372 565370	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:1556	arthus reaction Aliases: Arthus phenomenon Arthus type urticaria	BTK FCGR2A	2212 695	Homo sapiens (human)	Alliance of Genome Resources
DOID:1586	rheumatic fever Aliases: ACUTE RHEUMATIC FEVER RhF - Rheumatic fever	GC HLA-DQA1 HLA-DQB1 HLA-DRB1 ICAM1	2638 3117 3119 3123 3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070067	White-Sutton syndrome Aliases: MRD37 WHSUS autosomal dominant mental retardation 37	Pogz	310658	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080839	X-linked warfarin sensitivity	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	Bmp4 Cdh1 Fgfr1 Gdf6 Mthfd1 Nectin1 Nog Pomt1 Sdc2	108156 12159 12550 14182 15529 18121 242316 58235 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080287	spinocerebellar ataxia 45	kug	40191	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060299	complement component 6 deficiency	C6	24237	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:50	thyroid gland disease	SECISBP2	79048	Homo sapiens (human)	Alliance of Genome Resources
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	Axn sca	36411 43565	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110366	retinitis pigmentosa 33 Aliases: RP33	Snrnp200	320632	Mus musculus (house mouse)	Alliance of Genome Resources

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