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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **11426 - 11450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome Aliases: Bennion-Patterson syndrome Howell-Evans syndrome TOC keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma with esophageal cancer tylosis with esophageal cancer tylosis-oesophageal carcinoma syndrome	RHBDF2	79651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070476	diphthamide deficiency syndrome Aliases: DEDSSH craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair	DPH2	1802	Homo sapiens (human)	Alliance of Genome Resources
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070365	nevoid basal cell carcinoma syndrome 1 Aliases: basal cell nevus syndrome 1	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080263	autosomal recessive nonsyndromic deafness 108	ROR1	4919	Homo sapiens (human)	Alliance of Genome Resources
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	LATS2	26524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	FGF17	8822	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B Aliases: CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B	KARS1	3735	Homo sapiens (human)	Alliance of Genome Resources
DOID:607	paraplegia Aliases: Paraplegia, lower	AKT1 FOXO4 NOS2	207 4303 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:1019	osteomyelitis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:14365	systemic primary carnitine deficiency disease Aliases: carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect	SLC22A5	6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:9279	hyperhomocysteinemia	AHCY APOE ATP1A1 ATP1A2 BCHE CBS CCL2 DYRK1A ECE1 EDNRA F10 F12 F2 F8 G6PD GPX1 GRIA1 GRIN2A GRIN2B ICAM1 MTR NGF NPPB SOD2	1859 1889 1909 191 2147 2157 2159 2161 2539 2876 2890 2903 2904 3383 348 4548 476 477 4803 4879 590 6347 6648 875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050336	hypophosphatemia	SLC34A1	6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112353	spermatogenic failure 64 Aliases: SPGF64	FBXO43	286151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:1724	duodenal ulcer Aliases: Curling Ulcer Curling's ulcers Stress Ulcer	ACO1 CFTR SLC11A2 STAT3 TFRC VEGFA	1080 48 4891 6774 7037 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110615	primary ciliary dyskinesia 25 Aliases: CILD25 primary ciliary dyskinesia 25 with or without situs inversus	DNAAF4	161582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112135	severe congenital neutropenia 8 Aliases: SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities	SRP54	6729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080446	developmental and epileptic encephalopathy 66 Aliases: DEE66 early infantile epileptic encephalopathy 66	PACS2	23241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	BMP2 HFE	3077 650	Homo sapiens (human)	Alliance of Genome Resources
DOID:5845	anterolateral myocardial infarction	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	FGFR1 FGFR2 TWIST1	2260 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080975	intracranial berry aneurysm 12	THSD1	55901	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081268	pulmonary venoocclusive disease 1	BMPR2	659	Homo sapiens (human)	Alliance of Genome Resources

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