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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 **9026 - 9050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome Aliases: CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome	fgfr3.S	399347	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:14219	renal tubular acidosis	rhbg rhcg	445260 496595	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FANCD2	2177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110751	type 1 diabetes mellitus 12 Aliases: IDDM12 Insulin-Dependent Diabetes Mellitus 12	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110725	neuronal ceroid lipofuscinosis 10 Aliases: CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency	Ctsd	13033	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110445	dilated cardiomyopathy 1KK Aliases: CMD1KK	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:2537	inflammatory and toxic neuropathy	Htr2a	29595	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	Atp5f1a	65262	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10155	intestinal cancer Aliases: malignant intestinal tumors malignant neoplasm of intestine	EMC1	850312	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	dbl-1	179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0060249	scoliosis	ADAMTS9 FBN1 FBN2 FGFR3 MMP1 PTK7 TBX6 TPH1	2200 2201 2261 4312 56999 5754 6911 7166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	W01F3.2 pxn-1 pxn-2 srp-3 ver-4 zmp-4	178672 179991 180351 181288 186632 191484	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0110448	dilated cardiomyopathy 1HH Aliases: CMD1HH	Bag3	29810	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	cac	32158	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	Sparc	20692	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	W01F3.2 acn-1 pgp-1 pgp-3 poml-1 poml-2 smf-1 smf-2 smf-3 srp-3 zmp-4	171999 177044 178215 178672 179991 180351 180780 180939 181326 187297 191766	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:4511	breast angiosarcoma Aliases: hemangiosarcoma of the breast	dep-1 ver-1 ver-4	174437 175182 186632	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3 Aliases: EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive	Lmna Lmnb1 Lmnb2	16905 16906 16907	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	PHKA2	5256	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	notch1	100037842	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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