GlyCosmos Portal

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

Displaying entries **3451 - 3475** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	BRINP3 CCL2 CCR2 COL1A1 CTSC IL10 IL1R2 IL2 IL6 POSTN PPIA	10631 1075 1277 339479 3558 3569 3586 5478 6347 729230 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:14743	trichorhinophalangeal syndrome type I Aliases: trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:14744	Partington syndrome Aliases: X-linked Russell-Silver syndrome	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	NSD1	64324	Homo sapiens (human)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	MCEE MMAB MMUT	326625 4594 84693	Homo sapiens (human)	Alliance of Genome Resources
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	FLT4 KDR	2324 3791	Homo sapiens (human)	Alliance of Genome Resources
DOID:14756	vascular type Ehlers-Danlos syndrome Aliases: autosomal dominant type IV Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:14761	Greig cephalopolysyndactyly syndrome Aliases: polysyndactyly with peculiars skull shape	GLI3	2737	Homo sapiens (human)	Alliance of Genome Resources
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	FLNB	2317	Homo sapiens (human)	Alliance of Genome Resources
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	GFRA1 GREB1L ITGA8	2674 80000 8516	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1 TWIST2	117581 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	ANKRD11	29123	Homo sapiens (human)	Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	APTX	54840	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:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	CCT2 CRB1 GUCY2D MYO7A PALS1 PRPH2 RDH11 RDH14	10576 23418 3000 4647 51109 57665 5961 64398	Homo sapiens (human)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	EDA EDAR	10913 1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABCB11 ABCB1 ABCB4 ABCB5 ABCC12 ABCC4 ADRB1 ADRB2 ADRB3 AGER C5 CCL11 CCL2 CCR3 CD14 CD40LG CFTR CLCA1 CLCN2 CSF3R CXCR3 CYP1A1 EDEM1 EDN1 FAS FASLG FCGR2A GCLC HAVCR2 HFE HLA-G HSPA1A HSPD1 IGFBP3 IL13 IL17A IL18BP IL1A IL1RN IL6 IL9 IL9R LEP LTA MBL2 MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B NOS1 NOS2 NOS3 PPARA PRSS1 PTGDR2 PTGS2 PTX3 SCNN1B SERPINA3 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TIMP1 TLR4 TLR5 TLR9 TNF	10068 10257 1080 11251 1179 1181 12 1232 1441 153 154 1543 155 177 1906 2212 2729 2833 3077 3135 3303 3329 340273 3486 355 3552 3557 356 3569 3578 3581 3596 3605 3952 4049 4153 4282 4318 4353 4582 4583 4586 4842 4843 4846 5243 5244 54106 5465 5644 5743 5806 6338 6347 6356 6439 6440 6441 653509 7040 7076 7099 7100 7124 727 727897 84868 8647 929 94160 959 9695	Homo sapiens (human)	Alliance of Genome Resources
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	HLA-DQB1 HLA-DRB1 IL4 TLR2 TLR4	3119 3123 3565 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	ABO	28	Homo sapiens (human)	Alliance of Genome Resources
DOID:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	DUOX2	50506	Homo sapiens (human)	Alliance of Genome Resources
DOID:150	disease of mental health	CIC GNPAT SNRNP70 STX1A	23152 6625 6804 8443	Homo sapiens (human)	Alliance of Genome Resources
DOID:1508	candidiasis Aliases: Disseminated candidiasis systemic candidiasis	ANP32B ANP32E ARPC5 ARPC5L CCT2 DHX36 EIF4E ELOA2 ELOA FTH1 FUT3 FUT4 FUT5 FUT6 FUT7 FUT9 LTF PRKD2 RRAGC SEC13 SMAP1 SMAP2 SMARCE1 UBXN4	10092 10541 10576 10690 170506 1977 23190 2495 2525 2526 2527 2528 2529 25865 4057 51224 60682 6396 64121 64744 6605 6924 81611 81873	Homo sapiens (human)	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	CALR CRKL EFNB2 FLT3LG FOXA1 HLA-DQA1 IGF2R KMT2D PRF1 SLCO1B3 SRC TGFB1 TGFB2 TLR3 TNFRSF17 TNFRSF1A TNFRSF1B TYMS UBA52 VEGFA	1399 1948 2323 28234 3117 3169 3482 5551 608 6714 7040 7042 7098 7132 7133 7298 7311 7422 8085 811	Homo sapiens (human)	Alliance of Genome Resources

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