GlyCosmos Portal

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

Displaying entries **3826 - 3850** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080206	CAKUT1 Aliases: Congenital anomalies of the kidney and urinary tract 1	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081359	epidermolytic hyperkeratosis 2	KRT10	3858	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111011	cone-rod dystrophy 6 Aliases: CORD6 RCD2 retinal cone dystrophy 2	GUCY2D	3000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110372	retinitis pigmentosa 4 Aliases: RP4	RHO	6010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111031	hemochromatosis type 5 Aliases: FTH1-associated iron overload FTH1-related iron overload HFE5	FTH1	2495	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080911	cerebrooculofacioskeletal syndrome 1	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	ACSL3 ACSL4 ALDH3A1 ALDH3A2 ALDH3B1 ALDH3B2	218 2181 2182 221 222 224	Homo sapiens (human)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ANGPT1 F12 F2 F7 HS3ST6 KNG1 MYOF PLG SERPING1	2147 2155 2161 26509 284 3827 5340 64711 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency Aliases: THPH3 autosomal dominant PROC deficiency autosomal dominant protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	APEX1 CD9 EFEMP2 ERAP1 FGFR3 MGMT PTGS1 PTK2 SPARC TK1	2261 30008 328 4255 51752 5742 5747 6678 7083 928	Homo sapiens (human)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ABCB1 ACTB ADD1 AGT AK2 AQP4 AVP AZGP1 CACNA1A CDC42 CRHBP CXCR4 CYFIP1 DBN1 DTNBP1 FOS FOXO3 GDNF GLUD1 GLUD2 GLUL GRIK5 GRIN2B GRM1 HCN1 HDAC2 KCNA1 KCNN4 MAP2 MAPT MBP MMP9 MTOR NOS1 NPY1R NPY2R NTRK2 PGF PRICKLE1 PTPRZ1 RASGRF1 RELN RGMA SHH SLC32A1 SLC6A1 VDAC2	118 1393 140679 144165 1627 183 204 2309 23191 2353 2475 2668 2746 2747 2752 2901 2904 2911 3066 348980 361 3736 3783 4133 4137 4155 4318 4842 4886 4887 4915 5228 5243 551 563 5649 56963 5803 5923 60 6469 6529 7417 773 7852 84062 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ABCC6 CAT ELN ENPP1 GPX1 MMP2 SOD2 VEGFA XYLT1 XYLT2	2006 2876 368 4313 5167 64131 64132 6648 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070379	developmental and epileptic encephalopathy 6B Aliases: DEE6B	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:1417	choroid disease	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070251	X-linked Emery-Dreifuss muscular dystrophy 6 Aliases: EDMD6 Emery-Dreifuss muscular dystrophy 6, X-linked XMPMA myopathy, X-linked, with postural muscle atrophy	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	AGER AOC3 ARHGEF17 CCL2 CCN1 COL1A2 COL22A1 CTSB CTSK CTSS EDN1 ENG IL6 KLF5 KMT2D MMP12 MMP14 MMP2 MMP9 NOS3 PKD1 PKD2 TIMP1 TNF VCAN VEGFA VWF	1278 1462 1508 1513 1520 169044 177 1906 2022 3491 3569 4313 4318 4321 4323 4846 5310 5311 6347 688 7076 7124 7422 7450 8085 8639 9828	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	EGF HNRNPA2B1 PSMC5 TNF VCP	1950 3181 5705 7124 7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	EPCAM	4072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110683	congenital myasthenic syndrome 18 Aliases: CMS18	SNAP25	6616	Homo sapiens (human)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	ACE ADM ADRB1 AGTR1 AGTR2 AVPR1A CAMK2D CMA1 CXCR3 DYRK1A EIF4G2 FN1 G6PD HAVCR1 LAMA2 LCN2 MPO NOS1 PDGFA PRL PTGER3 PTGS1 RELA REN SLC9A1 SLC9A3 SPP1	1215 133 153 1636 185 1859 186 1982 2335 2539 26762 2833 3908 3934 4353 4842 5154 552 5617 5733 5742 5970 5972 6548 6550 6696 817	Homo sapiens (human)	Alliance of Genome Resources
DOID:5410	pulmonary neuroendocrine tumor	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110995	Joubert syndrome 26 Aliases: JBTS26	KATNIP	23247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112145	retinitis pigmentosa 88 Aliases: RP88	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources

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