GlyCosmos Portal

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

Displaying entries **11926 - 11950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	Cad87A Cad99C	41441 43528	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111021	cone-rod dystrophy 15 Aliases: CORD15	Cad86C Cad87A	41302 41441	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080419	developmental and epileptic encephalopathy 50 Aliases: CDG syndrome type Iz CDG-Iz Carbohydrate deficient glycoprotein syndrome type Iz Congenital disorder of glycosylation type 1z DEE50 early infantile epileptic encephalopathy 50	Cad	69719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050833	orotic aciduria	Cad Umps	22247 69719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	Cad Cps1	227231 69719	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080822	aspirin-induced respiratory disease Aliases: aspirin-sensitive asthma	Cacng6 Cysltr2 H2-Aa H2-Ab1 H2-Eb1 Il4 Ptgs2 Tbxa2r	14960 14961 14969 16189 19225 21390 54378 70086	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	Cacng2	84347	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	Cacng2	12300	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111323	idiopathic generalized epilepsy 9 Aliases: EIG9	Cacnb4	12298	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:963	episodic ataxia Aliases: Isaacs syndrome	Cacnb4	12298	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050993	episodic ataxia type 5	Cacnb4	12298	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081023	retinal cone dystrophy 4	Cacna2d4	319734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10273	heart conduction disease Aliases: heart rhythm disease	Cacna2d3 Camk2a Kcnh2 Kcnh7 Kcnk10 Kcnk16 Kcnk18 Kcnk2 Kcnk4 Mme	116489 117018 170739 170899 24590 25400 306243 445371 65272 688996	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10273	heart conduction disease Aliases: heart rhythm disease	Cacna2d3 Cacna2d4 Camk2a Camk2b Camk2d Camk2g Kcnh2 Kcnh7 Kcnk16 Kcnk18 Kcnk2 Kcnk4 Kcnma1 Kcnq1 Kcnq2 Kcnq3 Mme Phex Slc6a2 Srebf1 Srebf2	108058 110862 12294 12322 12323 12325 16511 16526 16528 16531 16535 16536 170738 17380 18675 20538 20787 20788 319734 332396 74571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070395	developmental and epileptic encephalopathy 110 Aliases: DEE110 early infantile epileptic encephalopathy 110	Cacna2d1	12293	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	Cacna1s	682930	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	Cacna1s Kcne3 Scn4a Scnn1a Scnn1b Scnn1g	24767 24768 25122 25722 63883 682930	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	Cacna1s Cacng1 Ryr2	29658 682930 689560	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	Cacna1s	12292	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	Cacna1s Kcne3 Scn4a Scnn1g Tubb4a Tubb4b Tubb5	110880 12292 20278 22153 22154 227613 57442	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	Cacna1s Cacng1 Ryr1 Ryr2	12292 12299 20190 20191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	Cacna1h Drd2 Ren Serpina1	114862 24318 24648 24715	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	Cacna1g	12291	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	Cacna1f	54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	Cacna1f	54652	Mus musculus (house mouse)	Alliance of Genome Resources

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