GlyCosmos Portal

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

Displaying entries **9851 - 9875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:870	neuropathy Aliases: peripheral neuropathy	CTSS MPZ NEMF NRG1 YARS1	1520 3084 4359 8565 9147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	HOMER2	9455	Homo sapiens (human)	Alliance of Genome Resources
DOID:8437	intestinal obstruction	HFE IL10 PTGS2	3077 3586 5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080313	cleft palate-lateral synechia syndrome Aliases: CPLS syndrome syngnathia	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:2959	hyperimmunoglobulin syndrome	CD40	958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070264	congenital disorder of glycosylation type IIl Aliases: CDG IIl CDG syndrome type IIL CDG2L CDGIIdl COG6-CGD Congenital disorder of glycosylation type 2l	COG6	57511	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:18	urinary system disease Aliases: Non-neoplastic urinary tract disease urinary tract disease	BMP4 LZTS2	652 84445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060242	synpolydactyly Aliases: syndactyly type 2	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	F3 KMT2E MYC NCAM1 PLAT SENP7	2152 4609 4684 5327 55904 57337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080266	primary ciliary dyskinesia 37	DNAH1	25981	Homo sapiens (human)	Alliance of Genome Resources
DOID:1074	kidney failure Aliases: renal failure	AMBP CD80 DRD1 EDN1 GFER GRP HIF1A KL MT1E MT1H MT2A NAMPT NPHS1 PARP1 PHEX PPARGC1A RHCG SERPINF1 SLC22A2 SLCO4C1 SPP1 TBXA2R TLR2 TLR4 TNFRSF1B	10135 10891 142 1812 1906 259 2671 2922 3091 353189 4493 4496 4502 4868 51458 5176 5251 6582 6696 6915 7097 7099 7133 9365 941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	SNRPB	6628	Homo sapiens (human)	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: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: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: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
DOID:12897	submandibular gland disease	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060250	idiopathic scoliosis	ADGRG6 DNAH10 KATNB1 MBTPS1 ODAD3 PRMT5 PTK7 PTPN11 RUNX3 SLC39A8 SLC6A9	10300 10419 115948 196385 57211 5754 5781 64116 6536 864 8720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050922	gastrointestinal carcinoma	GRB7 NOD2	2886 64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:12971	hereditary spherocytosis Aliases: Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia	ANK1 EPB42 SLC4A1 SPTA1 SPTB	2038 286 6521 6708 6710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources

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