GlyCosmos Portal

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

Displaying entries **9776 - 9800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081108	keratosis palmoplantaris striata 1	Dsg1a Dsg1b Dsg1c	13510 211924 225256	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080494	ovarian dysgenesis 2	Bmp15	12155	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110530	autosomal recessive nonsyndromic deafness 84B Aliases: DFNB84B autosomal recessive deafness 84B	Otogl	628870	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112001	immunodeficiency 50 Aliases: CID due to Moesin deficiency IMD50 MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency combined immunodeficiency due to Moesin deficiency immunodeficiency 50 X linked recessive	Msn	17698	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14400	capillary leak syndrome	Pon1	18979	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1307	dementia	Adipoq Bace1 Bax Bche Drd2 Egfr Grn Gsr Hmgcr Igf1r Lrpap1 Mapt Ngfr Notch4 Pcsk1n Pla2g7 Pon1 Vldlr	11450 12028 12038 13489 13649 14782 14824 15357 16001 16976 17762 18053 18132 18979 22359 23821 27226 30052	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112337	spermatogenic failure 55 Aliases: SPGF55	Spag17	74362	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	Cwh43	231293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5 Aliases: CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness	Prps1 Prpsap1	19139 67763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	Hsd17b4 Trak1	15488 67095	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111461	cardiofaciocutaneous syndrome 2 Aliases: CFC2	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies Aliases: DEVDFB	U2af2	22185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:700	mitochondrial metabolism disease	Iars2 Lars2 Letm2 Ndufs1 Ndufs4 Ndufs8 Slc25a4 Slc25a5 Tomm70a Vars1	102436 11739 11740 17993 22321 225887 227197 270035 28185 381314	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070155	hereditary sensory and autonomic neuropathy type 2A Aliases: HSAN2A hereditary sensory and autonomic neuropathy type IIA	Wnk1	232341	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	Cic	71722	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111370	apolipoprotein C-III deficiency Aliases: HALP2 hyperalphalipoproteinemia 2	Apoc3	11814	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	Akt1 Cyp1a1 Il10 Il1r2 Il5 Pik3ca Tnfaip3	11651 13076 16153 16178 16191 18706 21929	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080325	tuberous sclerosis 2	Ifng	15978	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	Abcb1b Ccl2 Epor G6pd2 G6pdx Gabra1 Gabrb1 Gabrg2 Gc Glud1 Gria1 Insr Ptgs1	13857 14380 14381 14394 14400 14406 14473 14661 14799 16337 18669 19224 20296	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080162	lupus nephritis	Ager Apoc3 C3 Ccl2 Cd40lg Cfb Cfh Cfhr4 Col1a1 Csf1 Ctla4 Egf Fcgr2b Fcgr3 H2-Aa H2-Eb1 Ifng Il1rn Itgam Klkb1 Mbl2 Mpo Nr3c1 Pdcd1 Tlr9 Tnf Tnfrsf11b Tnfrsf1a Tnfrsf1b Vcam1	11596 11814 12266 12477 12628 12842 12977 13645 14130 14131 14815 14960 14962 14969 15978 16181 16409 16621 17195 17523 18383 18566 20296 214403 21926 21937 21938 21947 22329 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111193	facioscapulohumeral muscular dystrophy 2 Aliases: FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2	Smchd1	74355	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	Enam	13801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3783	Coffin-Lowry syndrome	Rps6ka1	20111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	Cd70 Fas Klrk1 Ncr1 Slc11a1 Stat3	14102 17086 18173 20848 21948 27007	Mus musculus (house mouse)	Alliance of Genome Resources

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