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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 **10026 - 10050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4GALT7	11285	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050641	Rh deficiency syndrome	RHAG	6005	Homo sapiens (human)	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	ALDH18A1 AP5Z1 ATL2 ATL3 ATP13A2 ATP13A3 ATP13A5 BSCL2 CAPN1 CAPN3 DNM1 DNM2 ERLIN1 ERLIN2 HSPD1 KIF5B L2HGDH NIPAL1 NIPAL4 PNPLA6 PNPLA7 PSMC4 RTN1 RTN2 RTN3 RTN4 SEC23IP SPAST	10313 10613 10908 11160 11196 152519 1759 1785 23400 25923 26580 3329 344905 348938 375775 3799 5704 57142 5832 6252 6253 64225 6683 79572 79944 823 825 9907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111094	Fanconi anemia complementation group N Aliases: FANCN	PALB2	79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	HK1	3098	Homo sapiens (human)	Alliance of Genome Resources
DOID:1962	fallopian tube disease	CCR5	1234	Homo sapiens (human)	Alliance of Genome Resources
DOID:769	neuroblastoma	ALK ARID1A CD55 CHAF1A IGF1R KIF1B LLGL1 LLGL2 LTK NME1 NODAL NSD1 NTRK1 PECAM1 SCNN1A SNRPE	10036 1604 23095 238 3480 3993 3996 4058 4830 4838 4914 5175 6337 64324 6635 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6V0A2	23545	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080517	Meier-Gorlin syndrome 6	GMNN	51053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	OXR1	55074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080444	developmental and epileptic encephalopathy 27 Aliases: DEE27 early infantile epileptic encephalopathy 27	GRIN2B	2904	Homo sapiens (human)	Alliance of Genome Resources
DOID:8712	neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:1324	lung cancer	ACE ACSL3 ALX4 ATR CA12 CALR CCDC116 CDKN1B CFTR CHD4 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COMT CSF1R CTNNB1 CYP1A1 CYP24A1 DAGLA DNMT1 DVL3 EGFR ERBB2 ERCC5 ERCC6 ESCO2 EZH2 FASLG FGF9 FOXA1 FOXM1 GPX1 GPX3 HP HPR HS3ST2 IDH2 IL1R2 IRS4 KRAS LRP1B MAP2K4 MAT2A MBD4 MBL2 MEF2D MKI67 MLH1 MMP1 MMP3 MPO MPZL3 MSH2 MYC MYD88 NCOA6 NFKB1 NOD2 PIK3CA POLE PRDM1 PTGS2 RAC1 RBM10 RECQL RICTOR RNASET2 ROBO1 SETDB1 SFTPB SLCO1B3 SOD2 SOX30 SOX9 SRSF6 STIM1 TERT TNC TPR TRIT1 TRPC4 TRPC7 TTR XPC XRCC1 XRN2	1027 1080 11063 1108 1136 1138 1139 1143 1312 1436 1499 1543 157570 1591 1636 164592 1786 1857 1956 196264 2064 2073 2074 2146 2181 2254 22803 2305 23054 253260 28234 2876 2878 3169 3240 3250 3371 3418 356 3845 4144 4153 4209 4288 4292 4312 4314 4353 4436 4609 4615 4790 5290 53353 5426 545 54802 57113 5743 5879 5965 60529 6091 639 64127 6416 6431 6439 6648 6662 6786 7015 7175 7223 7276 747 7508 7515 771 7850 81037 811 8241 8471 8635 8930 9869 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	PLA2G2A TLR2	5320 7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070055	Xia-Gibbs Syndrome Aliases: MRD25 autosomal dominant mental retardation 25	AHDC1	27245	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	MSTN	2660	Homo sapiens (human)	Alliance of Genome Resources
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	ADAMTS14 APOA4 CD36 CD80 CSPG4 CTSS FAS GRN HAVCR1 HSPA8 MMP19 MMP9 NEFH NEFL NOD2 NOG SERPINE1 TIMP1	140766 1464 1520 26762 2896 3312 337 355 4318 4327 4744 4747 5054 64127 7076 9241 941 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	IGF1R MET MGMT SLC2A2	3480 4233 4255 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	MPL	4352	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111395	mucopolysaccharidosis type IIIA Aliases: MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A)	GNS SGSH	2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ADIPOQ AHSG ANGPTL6 APOD ATP2B4 CALB1 CCL2 CDKAL1 CYP24A1 CYP27B1 CYP2R1 DCN DNAH8 GAD2 GCK GGT1 GPX1 HNF1A ICAM1 IGF1R IL10 IL6 INHBA INS INSR ITPR1 ITPR2 ITPR3 LEP MET OGG1 PLAT RBP4 RYR1 RYR2 RYR3 SRRM1 TRPV5 TRPV6	10250 120227 1591 1594 1634 1769 197 2572 2645 2678 2876 3383 347 3480 3569 3586 3624 3630 3643 3708 3709 3710 3952 4233 493 4968 5327 54901 55503 56302 5950 6261 6262 6263 6347 6927 793 83854 9370	Homo sapiens (human)	Alliance of Genome Resources

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