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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 **4451 - 4475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070371	leukoencephalopathy with vanishing white matter 4	EIF2B4	8890	Homo sapiens (human)	Alliance of Genome Resources
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ANGPT2 DLL4 EPO EPOR FLT1 HGF HLA-B HLA-DRB1 ICAM1 IGFBP3 IHH IL10 KDR NOS1 NOS2 NOS3 NOTCH1 SERPINE1 SERPINF1 SOD1 VEGFA	2056 2057 2321 285 3082 3106 3123 3383 3486 3549 3586 3791 4842 4843 4846 4851 5054 5176 54567 6647 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F Aliases: CMTDIF autosomal dominant intermediate Charcot-Marie-Tooth disease type F	GNB4	59345	Homo sapiens (human)	Alliance of Genome Resources
DOID:850	lung disease	ACE2 ACE ACTR2 ADORA1 ADORA2A APEX1 BDKRB2 C3AR1 C5AR1 CAT CCL2 CCL5 CCR2 CFTR CNTN2 COL5A2 CSF3 CX3CL1 DEFB1 EDNRA EGFR EGR1 F2RL1 GPX3 GSN HLA-DPB1 IFNG IL10 IL13 IL15 IL18R1 IL1A IL2 IL6 MEFV MIF MMP9 MPO MUC1 NOS2 NOS3 NR3C1 SERPINE1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TGFB1 TLR2 TLR4 TNF	10097 1080 1290 134 135 1440 1636 1672 1909 1956 1958 2150 2878 2908 2934 3115 328 3458 3552 3558 3569 3586 3596 3600 4210 4282 4318 4353 4582 4843 4846 5054 59272 624 6347 6352 6376 6439 6440 6441 653509 6900 7040 7097 7099 7124 719 728 729230 729238 847 8809	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081326	oxoglutarate dehydrogenase deficiency Aliases: Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	ELOVL4 KERA TACSTD2 TGFBI	11081 4070 6785 7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:9675	pulmonary emphysema	ALB CCL11 CCL2 CCR5 CLPTM1L CSF3 CXCR3 EDNRA EGR1 ELANE FGA FSTL1 FUT8 GCLC HDAC2 ITGB6 JUN KEAP1 KL MMP1 MMP2 MMP9 NFE2L2 NOS2 PTGS2 PTMA SERPINA1 SFTPC SMO SMPD3 TGFB1 TLR4	11167 1234 1440 1909 1958 1991 213 2243 2530 2729 2833 3066 3694 3725 4312 4313 4318 4780 4843 5265 55512 5743 5757 6347 6356 6440 6608 7040 7099 81037 9365 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:13404	uveoparotid fever Aliases: Heerfordt's syndrome	HLA-DRB1	3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia A	C3 C5 CFB CFP F2 F8 FCGR2A HLA-DQA1 IFNG IL10 PLAT TFPI TGFB1	2147 2157 2212 3117 3458 3586 5199 5327 629 7035 7040 718 727	Homo sapiens (human)	Alliance of Genome Resources
DOID:636	central pontine myelinolysis Aliases: osmotic demyelination syndrome	AQP1 AQP4	358 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111298	familial febrile seizures 8 Aliases: FEB8 familial febrile convulsions 8	GABRG2	2566	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	VPS13A VPS13B VPS13C	157680 23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:3756	protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111349	hereditary desmoid disease Aliases: FIF familial infiltrative fibromatosis	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:14679	VACTERL association	DYNC2H1 FN1 PCSK5 QSOX1 SHH TBC1D32	221322 2335 5125 5768 6469 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	IL4	3565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	TBX3	6926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	GMPPB	29925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112125	alpha-thalassemia myelodysplasia syndrome Aliases: ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111816	syndactyly type 1 Aliases: SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources

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