GlyCosmos Portal

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

Displaying entries **10201 - 10225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ABCB1 ACE ADORA1 ADRB1 BDNF BMP7 CCL2 CCL5 CYSLTR1 CYSLTR2 EDN1 EDNRA GHRL GHSR HP ICAM1 IL10 IL6 LEP LEPR MMP9 MUC1 NGF NOS2 NOS3 NR3C1 NRG1 NTRK1 PLA2G7 PTGS2 RELA SERPINE1 SFTPB SLC6A4 TNF TNFRSF1A	10800 134 153 1636 1906 1909 2693 2908 3084 3240 3383 3569 3586 3952 3953 4318 4582 4803 4843 4846 4914 5054 51738 5243 57105 5743 5970 627 6347 6352 6439 6532 655 7124 7132 7941	Homo sapiens (human)	Alliance of Genome Resources
DOID:962	neurofibroma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:1532	pleural disease Aliases: disorder of pleura non-neoplastic pleural disease	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	LDB3 MYH15 MYH1 MYH7	11155 22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:13208	background diabetic retinopathy Aliases: Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy	A2M CAT FLT1 PDGFB	2 2321 5155 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:423	myopathy	ACTB CLCN2 CLCNKB COL15A1 COL18A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM2 FHL1 FLNA FLNB FLNC HMGCR HNRNPA1 HNRNPA1L2 HNRNPA2B1 HNRNPA3 LDB3 LMNA LMNB1 LMNB2 MEGF10 MEGF11 MTM1 MTMR1 MTMR2 MYBPC2 MYH15 MYH1 MYH7 NPL PDLIM5 PDLIM7 PEAR1 PSMC5	10611 11155 1181 1188 1282 1285 1286 1287 1288 1306 144983 1785 220988 2273 22989 2316 2317 2318 3156 3178 3181 375033 4000 4001 4534 4606 4619 4625 5705 60 80781 80896 84465 84466 84823 8776 8898 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:12466	secondary hyperparathyroidism	ABCG2 CASR ENG KL PTGS2 TNFRSF11B	2022 4982 5743 846 9365 9429	Homo sapiens (human)	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	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111700	ankyrin-B-related cardiac arrhythmia Aliases: ankyrin-B syndrome	ANK2	287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050469	Costello syndrome Aliases: FCS SYNDROME Faciocutaneoskeletal Syndrome	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112219	developmental and epileptic encephalopathy 84 Aliases: DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84	UGDH	7358	Homo sapiens (human)	Alliance of Genome Resources
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	AKAP6 ASPM BRD7 CCR3 DAXX FUBP1 KIF1B NME1 PLK1 PLK3 PTGES RUNX3 SPARC SRSF3 TAB2	1232 1263 1616 23095 23118 259266 29117 4830 5347 6428 6678 864 8880 9472 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:6612	leukocyte adhesion deficiency Aliases: Congenital leukocyte adherence deficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	ENPP1 IL6 NOTCH1	3569 4851 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	NOTCH2	4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:8483	retinal artery occlusion	F5 IL10 IL6 LPA	2153 3569 3586 4018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	CORO1A JAK3	11151 3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081363	distal myopathy with rimmed vacuoles	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111079	birdshot chorioretinopathy Aliases: BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis	HLA-B IL2	3106 3558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050790	fibular hypoplasia and complex brachydactyly Aliases: Du Pan syndrome acromesomelic dysplasia-2B	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081046	frontonasal dysplasia 2	ALX4	60529	Homo sapiens (human)	Alliance of Genome Resources

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