GlyCosmos Portal

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

Displaying entries **8926 - 8950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2216	factor V deficiency Aliases: Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile	F5 LMAN1 TFPI	2153 3998 7035	Homo sapiens (human)	Alliance of Genome Resources
DOID:2187	amelogenesis imperfecta	FAM20C	56975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081108	keratosis palmoplantaris striata 1	DSG1	1828	Homo sapiens (human)	Alliance of Genome Resources
DOID:1825	childhood absence epilepsy Aliases: petit mal seizure pyknolepsy	CACNA1A CACNA1H CACNG2 GABRB3 GABRG2 GLUD1 GLUD2 GRIK1 HCN1 HTR7 LGI4 MMP9 NPY1R NPY2R NPY5R SLC2A1 YWHAZ	10369 163175 2562 2566 2746 2747 2897 3363 348980 4318 4886 4887 4889 6513 7534 773 8912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111286	psoriasis 1 Aliases: PSORS1	HLA-C	3107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050647	Arts syndrome Aliases: ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type	PITX2 PRPS1 PRPSAP1	5308 5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110971	brachydactyly type D Aliases: BDD	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060944	episodic kinesigenic dyskinesia 3	TMEM151A	256472	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	ACE ADM AGT AGTR2 ALOX15 ANXA5 AXL BDKRB1 C1QA C3 C6 CCL1 CCL7 CD163 CD59 CFI CNDP1 COL4A3 CSF1 CX3CL1 EP300 F2 FBN1 FCGR2B FCGR3A FN1 FOS GAS6 GDNF IFNG IL1RN ITGA3 ITGB1 ITGB3 KLKB1 LTBP1 LTC4S MMP3 MPO MS4A1 NGF NPPA PDGFB PDGFD PLA2G7 PRF1 PTAFR SERPINE1 SPP1 TBXAS1 TF TNFRSF1A TNFRSF1B TPO VCAM1 VEGFA	1285 133 1435 1636 183 186 2033 2147 2200 2213 2214 2335 2353 246 2621 2668 308 3426 3458 3557 3675 3688 3690 3818 4052 4056 4314 4353 4803 4878 5054 5155 5551 558 5724 623 6346 6354 6376 6696 6916 7018 712 7132 7133 7173 718 729 7412 7422 7941 80310 84735 931 9332 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	CDC42	998	Homo sapiens (human)	Alliance of Genome Resources
DOID:1800	neuroendocrine carcinoma	ENO2	2026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090113	RIDDLE syndrome Aliases: RNF168 deficiency Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome	RNF168	165918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3 Aliases: GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3	PGAP2	27315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:2703	synovitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050776	non-syndromic X-linked intellectual disability Aliases: non-specific X-linked mental retardation	ACSL3 ACSL4 ALX4 ARX CSTF2 FTSJ1 IQSEC2 THADA ZMYM3	1478 170302 2181 2182 23096 24140 60529 63892 9203	Homo sapiens (human)	Alliance of Genome Resources
DOID:4586	familial meningioma	MN1 PDGFB PTEN SMARCE1	4330 5155 5728 6605	Homo sapiens (human)	Alliance of Genome Resources
DOID:12271	aniridia Aliases: Aplasia of iris isolated aniridia	ELP4	26610	Homo sapiens (human)	Alliance of Genome Resources
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	AMHR2 FLT1 KIT MED12 TERT XRN2	22803 2321 269 3815 7015 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080784	urinary tract infection Aliases: UTI	CXCR1 HSPA1B IL1A LCN2 TLR2 TLR4	3304 3552 3577 3934 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111391	mucopolysaccharidosis IVA Aliases: GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A	GALNS GLB1	2588 2720	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	TUBB3	10381	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities Aliases: NEDMCR syndrome	GEMIN4	50628	Homo sapiens (human)	Alliance of Genome Resources

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