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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 **9251 - 9275** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0090125	brain small vessel disease 1 Aliases: BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly	Col4a1	12826	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2861	congenital nonspherocytic hemolytic anemia Aliases: HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia	HXK1 HXK2 PGI1 PYK2 ZWF1	850614 852495 852639 854529 855480	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	CDH23 PCDH15	64072 65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:3307	teratoma	Ctnnb1 Tymp	315219 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	Col1a1 Il10 Met	24553 25325 29393	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:9649	congenital nystagmus	Robo1	19876	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14705	Pfeiffer syndrome Aliases: acrocephalosyndactylia type V	btl htl	39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3glct	381694	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081371	lacrimoauriculodentodigital syndrome 2 Aliases: Lacrimo-auriculo-dento-digital syndrome 2	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:2526	prostate adenocarcinoma	ADIPOQ AKT1 AKT2 AKT3 AR BIN1 CD9 CLU CREB3L4 GRB2 IGF1R IKBKB INSR JUN KDR MAP2K1 MYC NCOA2 PAM PDGFA PDGFRA PIK3CB PRKCQ RAF1 RELA STAT1	10000 10499 1191 148327 207 208 274 2885 3480 3551 3643 367 3725 3791 4609 5066 5154 5156 5291 5588 5604 5894 5970 6772 928 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050778	Meckel syndrome Aliases: Meckel-Gruber syndrome	tmem231	100145127	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:4481	allergic rhinitis Aliases: Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis	Mdr49 Mdr65 TkR99D Tl mys	36428 38726 43222 43551 44885	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	Tgfbr2	21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	ptc	35851	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080467	developmental and epileptic encephalopathy 2 Aliases: DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2	Cdkl5	382253	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	Bmp2 Bmp4 Eda Grem2 Lrp6 Tspear Wnt10a Wnt10b	12156 12159 13607 16974 22409 22410 23893 252974	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090094	hypogonadotropic hypogonadism 1 with or without anosmia Aliases: dysplasia olfactogenitalis of de morsier	ANOS1	3730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	P3h1	114200	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080425	developmental and epileptic encephalopathy 47 Aliases: DEE47 early infantile epileptic encephalopathy 47	FGF10 FGF16 FGF3 FGF5 FGF6 FGF7	2248 2250 2251 2252 2255 8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:219	colon cancer	acvr2a.L akt1.S hs3st2.L hs3st2.S	108701605 108703165 399170 399283	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050606	acrokeratosis verruciformis Aliases: Acrokeratosis verruciformis of Hopf Hopf disease	Atp2a2	11938	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	Vwa1	246228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050990	episodic ataxia type 2	cacna1aa cacna1ab	562059 569528	Danio rerio (zebrafish)	Alliance of Genome Resources

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