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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 **5626 - 5650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110939	autosomal recessive osteopetrosis 5 Aliases: OPTB5 infantile malignant osteopetrosis 3	OSTM1	28962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111396	congenital dyserythropoietic anemia type I Aliases: CDA I CDA type 1 CDA type I Congenital dyserythropoietic anaemia type 1 Congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anaemia type I	Cdan1	68968	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	Cd40lg	84349	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3512	neurofibrosarcoma Aliases: Neurosarcoma	vegfaa	30682	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081398	holoprosencephaly 12 Aliases: holoprosencephaly-12 with or without pancreatic agenesis	Cnot1	234594	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070004	myeloid neoplasm	Cbl Cd36 F3 Fgfr1 Gpx1	12402 12491 14066 14182 14775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111867	nonphotosensitive trichothiodystrophy	Tars1	110960	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	MUC1 REN UMOD	4582 5972 7369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080394	nephrotic syndrome type 19	NUP160	23279	Homo sapiens (human)	Alliance of Genome Resources
DOID:670	amphetamine abuse	akt1.S	399170	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	DAG1 SGCA	1605 6442	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	SNF5	852592	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	notch1.S	394367	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	CAVIN1	284119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060036	intrinsic cardiomyopathy	CCT3 CCT4 CCT6A DAAM1 DSG2 MRPS33 MYH7 NPPA RPL27A RPS3	10575 1829 23002 4625 4878 51650 6157 6188 7203 908	Homo sapiens (human)	Alliance of Genome Resources
DOID:9470	bacterial meningitis	ACHE BCHE BDNF CD46 CHI3L1 MMP9 NGF PARP1 TREM1	1116 142 4179 43 4318 4803 54210 590 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	Kit	16590	Mus musculus (house mouse)	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:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	NUP35 PTEN SPRY2	10253 129401 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	Abcc8 Gck	24385 25559	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081219	autosomal recessive intellectual developmental disorder 57	MBOAT7	79143	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050952	spastic ataxia	Afg3l2	69597	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	foxo1a	768121	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	Acta1 Acta2 Actb Actbl2 Actc1 Actg1 Tfap2b	11459 11461 11464 11465 11475 21419 238880	Mus musculus (house mouse)	Alliance of Genome Resources

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