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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 **4201 - 4225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070053	autosomal dominant intellectual developmental disorder 23 Aliases: MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23	SETD5	55209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110806	hereditary spastic paraplegia 54 Aliases: SPG54 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54	DDHD1 SEC23IP	11196 80821	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	MAN2B1	4125	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080097	myofibrillar myopathy 6	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn Aliases: DEB, bullous dermolysis of the newborn DEB-BDN	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	GLI2 NOG SHH	2736 6469 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111563	Sturge-Weber syndrome Aliases: SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis	FN1 MMP2 MMP9	2335 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050469	Costello syndrome Aliases: FCS SYNDROME Faciocutaneoskeletal Syndrome	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	ACTA2 GJC2 PGF	5228 57165 59	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:1725	peritoneum cancer	GP1BA PRG2	2811 5553	Homo sapiens (human)	Alliance of Genome Resources
DOID:6713	cerebrovascular disease Aliases: CVA cerebrovascular disorder stroke	AGT AGTR1 APOE ARHGEF7 G6PD GLCE GPX3 GRP LMNA NR1H3 P2RY12 SELE	10062 183 185 2539 26035 2878 2922 348 4000 6401 64805 8874	Homo sapiens (human)	Alliance of Genome Resources
DOID:104	bacterial infectious disease	DOCK8 HLA-DQB1 HLA-DRB1 IL10 IL2 MAGT1 MBL2 RELA RELB SDC4 SLC35A2 TUSC3	3119 3123 3558 3586 4153 5970 5971 6385 7355 7991 81704 84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:13774	Addison's disease Aliases: Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism	CIITA CLEC16A HLA-DQB1 HLA-DRB1	23274 3119 3123 4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080776	partial androgen insensitivity syndrome Aliases: Reifenstein syndrome	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	ACVRL1 ENG GLMN MAP2 MMP9 RASA1 TEK	11146 2022 4133 4318 5921 7010 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060764	autosomal recessive Robinow syndrome Aliases: COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome	PRICKLE1 ROR2	144165 4920	Homo sapiens (human)	Alliance of Genome Resources
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AMH CYP19A1 HSD17B3	1588 268 3293	Homo sapiens (human)	Alliance of Genome Resources
DOID:9655	oral mucosa leukoplakia	ATM H2AX SNAI1 TP53 XRCC1	3014 472 6615 7157 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	ADGRB1 ADGRL4 AKT3 ASPM ATRX BAG3 BRD7 CBX8 CHAF1B CHI3L1 CPE CPEB1 CTSB CTSH DMBT1 E2F1 EGF ENPP1 EZH2 FLT3LG HEATR1 HRAS IDH1 IL16 KCNC2 KDR KRAS L1CAM MAP2K2 MAP2K3 MDM2 MGMT MMP2 MMP9 NRAS PDGFB PDGFRB PDPN PGF PIK3CB PIK3CD POLE PTGS1 PTGS2 PTPRB RB1 RPL35A SERPING1 SLC7A5 STAT3 STAT5A TNC TP53 XRCC1	10000 10630 1116 1363 1508 1512 1755 1869 1950 2146 2323 259266 29117 3265 3371 3417 3603 3747 3791 3845 3897 4193 4255 4313 4318 4893 5155 5159 5167 5228 5291 5293 5426 546 55127 5605 5606 57332 5742 5743 575 5787 5925 6165 64123 64506 6774 6776 710 7157 7515 8140 8208 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070222	progressive familial intrahepatic cholestasis 2 Aliases: BSEP deficiency PFIC2	ABCB11	8647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	SOX9	6662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources

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