GlyCosmos Portal

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

Displaying entries **4351 - 4375** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060478	Zika fever Aliases: Zika virus disease	STAT2	6773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112129	severe congenital neutropenia 7 Aliases: SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency	CSF3R	1441	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111315	idiopathic generalized epilepsy 14 Aliases: EIG14	SLC12A5	57468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070316	Miura type epiphyseal chondrodysplasia Aliases: ECDM tall stature-scoliosis-macrodactyly of the great toes syndrome tall stature-scoliosis-macrodactyly of the halluces syndrome	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	ABAT ADRA2A AVPR1B BAX BDNF CAT CDK5 CHAT CHRM2 CHRNA3 CHRNB3 CHRNB4 CREB1 CRHBP CRHR1 CRHR2 CYP1A2 CYP2B6 CYP2C18 CYP2D7 CYP2E1 CYP3A5 DBH DRD1 DRD2 DRD5 FADD FOS FOSB GABRA5 GATA2 GDNF GPM6A GPM6B GPX1 GPX3 GSK3B HTR1A HTR2A HTR3B IL1RN IL6 IL6R JUN KMO L1CAM LINC02210-CRHR1 NCAM1 NEFL NGF NGFR NOS1 NPPC NPY1R NPY2R NR3C1 NTRK2 OPRK1 PANX1 PAWR PLA2G2A PLP1 PRL REN SLC5A7 SLC6A2 SLC6A4 SNCA SNCG TPH1 TREM1 XIRP2	1020 104909134 1103 1129 1136 1142 1143 129446 1385 1393 1394 1395 150 1544 1555 1562 1564 1571 1577 1621 18 1812 1813 1816 2353 2354 24145 2558 2624 2668 2823 2824 2876 2878 2908 2932 3350 3356 3557 3569 3570 3725 3897 4684 4747 4803 4804 4842 4880 4886 4887 4915 4986 5074 5320 5354 54210 553 5617 581 5972 60482 627 6530 6532 6622 6623 7166 847 8564 8772 9177	Homo sapiens (human)	Alliance of Genome Resources
DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type Aliases: Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia	TONSL	4796	Homo sapiens (human)	Alliance of Genome Resources
DOID:12897	submandibular gland disease	FN1	2335	Homo sapiens (human)	Alliance of Genome Resources
DOID:12143	neurogenic bladder Aliases: Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050581	brachydactyly	HOXD13 SLC26A2	1836 3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy Aliases: Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050169	cutaneous lupus erythematosus	CCR3 CD40 CD40LG IL17A	1232 3605 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080411	familial adenomatous polyposis 3	NTHL1	4913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110027	age related macular degeneration 15 Aliases: ARMD15	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050789	tarsal-carpal coalition syndrome	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081138	agammaglobulinemia 6	CD79B	974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	ANXA1 ANXA2 TP53	301 302 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:10762	portal hypertension	ALOX5 ANGPT2 AVP AVPR1A BDKRB2 CCL2 CPEB1 CPEB4 CX3CL1 DBH EDN1 EDNRA EDNRB F5 FGFR2 HSP90AA1 MTOR NGFR NOS1 NOS3 NR1D1 PRL PTEN PTGS2 REN SERPINF1 TMEM67 TNF VASH1 VEGFA	1621 1906 1909 1910 2153 2263 22846 240 2475 285 3320 4804 4842 4846 5176 551 552 5617 5728 5743 5972 624 6347 6376 64506 7124 7422 80315 91147 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070123	congenital nongoitrous hypothyroidism 4 Aliases: CHNG4 isolated thyrotropin deficiency	TSHB	7252	Homo sapiens (human)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	ATP7A EFEMP1 EFEMP2 ELN FBLN5 LTBP1 LTBP4	10516 2006 2202 30008 4052 538 8425	Homo sapiens (human)	Alliance of Genome Resources

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