GlyCosmos Portal

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

Displaying entries **6426 - 6450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111669	hyaline fibromatosis syndrome Aliases: HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis	Antxr2	71914	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy Aliases: Hjmd hypotrichosis with cone-rod dystrophy	Cdh3	12560	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110266	cataract 9 multiple types Aliases: CTRCT9 cataract 9 multiple types with or without microcornea	Cryaa	12954	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC Aliases: CMT2CC Charcot-Marie-Tooth neuropathy type 2CC	Nefh	380684	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	Psap	19156	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13141	uveitis	Ace Aoc3 Aqp1 Aqp4 Ass1 Ccl2 Ccr5 Cd163 Gc H2-Aa H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Hspa1l Icam1 Icos Ifng Ifngr1 Il10 Il13 Il17a Il1a Il23r Il2 Il6ra Lcn2 Nr3c1 Rela Serpina3n Serpinf1 Sncb Tgfb1 Tjp1 Tlr4 Tnf Tnfrsf1a Vip	104069 110557 11421 11754 11826 11829 11898 12774 14473 14815 14960 14961 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15482 15894 15978 15979 16153 16163 16171 16175 16183 16194 16819 19697 20296 20317 20716 209590 21803 21872 21898 21926 21937 22353 54167 93671	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070283	primary autosomal recessive microcephaly 13 Aliases: MCPH13	Cenpe	229841	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9281	phenylketonuria Aliases: Folling's disease PKU maternal phenylketonuria phenylalaninemia	G6pd2 G6pdx Nefh	14380 14381 380684	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081015	congenital fibrosis of the extraocular muscles 1	Kif21a	16564	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1037	lymphoid leukemia Aliases: lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia	Eng Fcgr2b Fcgr3 Gsr	13805 14130 14131 14782	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060879	primary hypomagnesemia Aliases: HOMG primary familial hypomagnesemia	Egf	13645	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	Acadm	11364	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2749	glycogen storage disease Ia	G6pc1	14377	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	Bnip3 Cd14 Cd40 Cd40lg Egf Hbegf Il10 Il10rb Plaur Ptafr Tjp1 Tlr1 Tlr2 Tlr3 Tlr4 Tlr5 Tlr6 Tlr7 Tlr9 Tnf	12176 12475 13645 142980 15200 16153 16155 170743 18793 19204 21872 21897 21898 21899 21926 21939 21947 24088 53791 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081082	acute myelomonocytic leukemia	Arhgap26 Flt3 Gmps	14255 229363 71302	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060882	renal hypomagnesemia 4 Aliases: HOMG4	Egf	13645	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	Lta Tnf	16992 21926	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	Pigb	55981	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11725	Cornelia de Lange syndrome Aliases: Brachmann de Lange syndrome De Lange syndrome	Nipbl	71175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112194	Filippi syndrome Aliases: Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome	Ckap2l	70466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	Otog	18419	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	Dnmt1	13433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	Col11a1	12814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	Bche Gc Grn H2-Ab1 H2-Eb1 Igfbp3 Il4ra Mmp9 Shh	12038 14473 14824 14961 14969 16009 16190 17395 20423	Mus musculus (house mouse)	Alliance of Genome Resources

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