GlyCosmos Portal

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

Displaying entries **6751 - 6775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	25058	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	Wfs1	22393	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	Khk	25659	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2565	macular corneal dystrophy Aliases: Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1	Chst5	307859	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	cacna1s.S	100381134	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0080820	occupational asthma	H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T23 H2-T3	110557 14964 14972 14990 15006 15007 15013 15015 15018 15040 15043	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:7725	epilepsy with generalized tonic-clonic seizures Aliases: Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy	Gabra1 Lgi1	252892 29705	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0040091	autoimmune pancreatitis	H2-Ab1	14961	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080809	chronic asthma	Ngf	310738	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060756	sclerosteosis 1 Aliases: SOST1	Sost	74499	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	Gatad2b	310614	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050152	aspiration pneumonia	acn-1	180780	Caenorhabditis elegans	Alliance of Genome Resources
DOID:299	adenocarcinoma	C49C8.5 Y43C5A.2 glp-1 lin-12	176282 176286 177668 177911	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111765	X-linked cardiac valvular dysplasia Aliases: CVD1 Dystrophie valvulaire associee a FLNA EDS 5 Ehlers-Danlos syndrome, type 5 FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia XMVD	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:3659	sialuria	Gne Slc17a5	114711 363103	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4483	rhinitis	ADAM33 BDKRB1 BDKRB2 BDNF C3 C3AR1 C5AR1 CCL11 CCL1 CCL24 CCL7 CCR2 CCR3 CD14 CD28 CDC42 CRHR1 CRHR2 CTLA4 CX3CL1 CYSLTR1 CYSLTR2 FCER1A HLA-DQA1 HLA-DQB1 IL13 IL16 IL17A IL1RL1 IL1RN IL22 IL23R IL2 IL4 IL4R IL9 LEP MBL2 MIF MUC5AC NGF NGFR NOD2 NOS2 NTRK1 OPA1 PTGDR2 SERPINE1 SFTPD TAP1 TGFB1 TLR2 TLR6 TNF VEGFA	10333 10800 11251 1232 1394 1395 149233 1493 2205 3117 3119 3557 3558 3565 3566 3578 3596 3603 3605 3952 4153 4282 4586 4803 4804 4843 4914 4976 5054 50616 57105 623 624 627 6346 6354 6356 6369 6376 64127 6441 6890 7040 7097 7124 718 719 728 729230 7422 80332 9173 929 940 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	RP1	6101	Homo sapiens (human)	Alliance of Genome Resources
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	kita	30256	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	Dctn1	13191	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2862	glucosephosphate dehydrogenase deficiency Aliases: Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD	IFNG IL10 IL6 SLC4A1	3458 3569 3586 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	gcy-28	172051	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111549	aplasia of lacrimal and salivary glands Aliases: ALSG congenital absence of lacrimal puncta and salivary glands	FGF10	2255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	CTH	1491	Homo sapiens (human)	Alliance of Genome Resources
DOID:14789	spondyloepiphyseal dysplasia congenita Aliases: Late Spondyloepiphyseal Dysplasia	COL2A1 HAPLN1	1280 1404	Homo sapiens (human)	Alliance of Genome Resources
DOID:3756	protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources

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