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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 **4351 - 4375** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	FOXH1	8928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	FAR1	84188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060772	multiple types of congenital heart defects 6 Aliases: DTGA3 dextro-looped transposition of the great arteries 3	GDF1	2657	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060704	lymphoproliferative syndrome Aliases: Combined immunodeficiency due to ITK deficiency	B2M CD70 FAS KIR3DS1 KLRK1 NCR1 SLC11A1 STAT3	22914 355 3813 567 6556 6774 9437 970	Homo sapiens (human)	Alliance of Genome Resources
DOID:14694	Johanson-Blizzard syndrome Aliases: JBS	UBR1	197131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	IGF2 IGFALS IGFBP3 PMM1 PMM2	3481 3483 3486 5372 5373	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1035	aggressive NK-cell leukemia Aliases: aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112210	developmental and epileptic encephalopathy 74 Aliases: DEE74 early infantile epileptic encephalopathy 74	GABRG2	2566	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	TCF20	6942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081331	glycogen storage disease Ic	SLC37A4	2542	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
DOID:0112008	pituitary adenoma 5 Aliases: PITA5 pituitary adenoma 5, multiple types	CDH23	64072	Homo sapiens (human)	Alliance of Genome Resources
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070282	primary autosomal recessive microcephaly 8 Aliases: MCPH8	CEP135	9662	Homo sapiens (human)	Alliance of Genome Resources
DOID:11721	glycogen storage disease VII Aliases: Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy	HIF1A PFKM	3091 5213	Homo sapiens (human)	Alliance of Genome Resources
DOID:10941	intracranial aneurysm Aliases: brain aneurysm	AGER AOC3 ARHGEF17 CCL2 CCN1 COL1A2 COL22A1 CTSB CTSK CTSS EDN1 ENG IL6 KLF5 KMT2D MMP12 MMP14 MMP2 MMP9 NOS3 PKD1 PKD2 TIMP1 TNF VCAN VEGFA VWF	1278 1462 1508 1513 1520 169044 177 1906 2022 3491 3569 4313 4318 4321 4323 4846 5310 5311 6347 688 7076 7124 7422 7450 8085 8639 9828	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	CCL2 CCL5 CHRM2 F2 HLA-DRB1 HSPA4 IFNG PRG2 SOAT1 VIM	1129 2147 3123 3308 3458 5553 6347 6352 6646 7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:8689	anorexia nervosa	AKAP6 HTR4 IGFALS NR3C1	2908 3360 3483 9472	Homo sapiens (human)	Alliance of Genome Resources
DOID:9498	pulmonary eosinophilia	ADAM8 IL10 IL1RN IL5	101 3557 3567 3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:9719	neovascular inflammatory vitreoretinopathy Aliases: ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy	AGER APOA4 BDNF CAT EDN1 HGF ICAM1 IGFBP6 IL6 KNG1 LRP5 LTA SERPINF1	177 1906 3082 337 3383 3489 3569 3827 4041 4049 5176 627 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive Aliases: SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	PRKDC	5591	Homo sapiens (human)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	HEXB	3074	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources

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