GlyCosmos Portal

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

Displaying entries **10826 - 10850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	Aldob	230163	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	Glra1	14654	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:594	panic disorder Aliases: panic anxiety syndrome	Cckbr Htr1a Manea Mbl2	12426 15550 17195 242362	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:0050585	congenital generalized lipodystrophy	Bscl2	14705	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111605	distal arthrogryposis type 2A Aliases: DA2A distal arthrogryposis type 2A (Freeman-Sheldon)	Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	140781 17879 17882 17883 17884 17888 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9406	hypopituitarism Aliases: Pituitary insufficiency pituitary hormone deficiency	Eif2s3x	26905	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	H2-Aa H2-Ab1 Lmna Spry2 Vipr1	14960 14961 16905 22354 24064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110957	Gaucher's disease type I Aliases: Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	Pnpla6	50767	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081358	epidermolytic hyperkeratosis 1	Krt1	16678	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060302	type II complement component 8 deficiency	C8b	110382	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4250	conjunctivochalasis	Mmp9	17395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4189	mutism	Cntnap2	66797	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	Tubb2a Tubb2b Tubb3 Tubb4a Tubb4b Tubb5 Tubb6	22151 22152 22153 22154 227613 67951 73710	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9952	acute lymphoblastic leukemia Aliases: ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia	Abcb1a Abcb1b Abcc2 Abcg2 Abo Bax Bcr Cast Cd46 Cd79b Cd86 Cfb Csf3 Cspg4 Cyp1a1 Eng Ephx1 Ezh2 F3 Fas Fga Flt3 Gnb1 Gpi1 Gpx1 Gsr H2-Aa H2-Ab1 Hdac1 Hdac4 Hfe Hk1 Ifng Il10 Kdm3b Kdm6a Kras Myc Nos3 Notch3 Nup214 Pon1	110279 12028 121021 12380 12524 12780 12985 13076 13805 13849 14056 14066 14102 14161 14255 14688 14751 14775 14782 14960 14961 14962 15216 15275 15978 15985 16153 16653 17221 17869 18127 18131 18669 18671 18979 208727 22289 227720 26357 277250 433759 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	Abcb1a Abcb1b Ace Adipoq F2 Pomc Thbd Tlr4	11421 11450 14061 18669 18671 18976 21824 21898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	Atp6v1a	11964	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110322	hypertrophic cardiomyopathy 16 Aliases: CMH16 cardiomyopathy familial hypertrophic 16	Myoz2	59006	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	Acaca Acer3 Adra2a Azgp1 Ccl2 Cd68 Col1a1 Cpt1a Gpbar1 Hspa5 Htr2b Icam1 Il10 Irf5 Krt18 Lepr Mc4r Mlxipl Nfe2l2 Nfkb1 Nox4 Pck1 Pdgfrb Ripk3 Serpinf1 Smad4 Sod1 Sod2 Srebf1 Timp1 Tnf	107476 11551 12007 12514 12842 12894 14828 15559 15894 16153 16668 16847 17128 17202 18024 18033 18534 18596 20296 20317 20655 20656 20787 21857 21926 227289 27056 50490 56532 58805 66190	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050748	marginal zone lymphoma Aliases: marginal zone B-cell lymphoma	H2-Aa H2-Ab1	14960 14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050646	distal arthrogryposis Aliases: Arthrogryposis Multiplex Congenita	Adamts15 Ecel1 Fbn2 Met Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b	13599 140781 14119 17295 17879 17882 17883 17884 17888 235130 544791 668940	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081297	oculopharyngodistal myopathy 1	Lrp12	239393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080943	46,XX sex reversal 5	Nr2f2	11819	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	Angptl3 Apob	238055 30924	Mus musculus (house mouse)	Alliance of Genome Resources

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