GlyCosmos Portal

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

Displaying entries **10151 - 10175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080429	developmental and epileptic encephalopathy 24 Aliases: DEE24 early infantile epileptic encephalopathy 24	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080484	peroxisome biogenesis disorder 10A Aliases: peroxisome biogenesis disorder 10A (Zellweger)	PEX3	8504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	SPTLC1	10558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060334	transient neonatal diabetes mellitus	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112192	tetraamelia syndrome 1 Aliases: TETAMS1 tetra-amelia syndrome 1	WNT3	7473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080143	congenital fibrosis of the extraocular muscles	KIF21A TUBB3	10381 55605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:2452	thrombophilia Aliases: hypercoagulability state	CD46 F2 FGA HLA-DQA1 PLG PROC SERPINA10 THBD	2147 2243 3117 4179 51156 5340 5624 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	GLRB	2743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080235	autosomal dominant intellectual developmental disorder 48 Aliases: autosomal dominant mental retardation 48	RAC1 RAC2 RAC3	5879 5880 5881	Homo sapiens (human)	Alliance of Genome Resources
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	ADIPOQ CDKL5 MECP2	4204 6792 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 BCHE GC GRN HLA-DQB1 HLA-DRB1 IGFBP3 IL4R MMP9 SHH	140766 2638 2896 3119 3123 3486 3566 4318 590 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:4441	dysgerminoma	AMHR2 FGFR2 INHA KIT POU5F1 ST14	2263 269 3623 3815 5460 6768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080697	Opitz GBBB syndrome Aliases: Opitz G/BBB Syndrome Opitz GBBB syndrome type I	MID1	4281	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060844	Norrie disease Aliases: Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria	FZD4	8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:4325	Ebola hemorrhagic fever Aliases: Ebola virus disease	CD163 IL3	3562 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	FGFR3 RICTOR	2261 253260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110399	retinitis pigmentosa 37 Aliases: RP37	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111541	pigmented paravenous chorioretinal atrophy Aliases: PPRCA	CRB1	23418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070299	multiple epiphyseal dysplasia 5 Aliases: BHMED EDM5 bilateral hereditary microepiphyseal dysplasia multiple epiphyseal dysplasia MATN3-related	MATN3	4148	Homo sapiens (human)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	ATP6V0A1 ATP6V0A2 ATP6V0A4 CTSB CYP11B1 SLC4A1 SLC4A4	1508 1584 23545 50617 535 6521 8671	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
DOID:2235	prothrombin deficiency Aliases: Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia	F2 F7	2147 2155	Homo sapiens (human)	Alliance of Genome Resources

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