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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 **4101 - 4125** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:5204	fructose-1,6-bisphosphatase deficiency Aliases: fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency	FBP1	2203	Homo sapiens (human)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG1L2 ALG3 ATP6AP2 B4GALT1 NUS1 PMM2	10159 10195 116150 2683 5373 56052 644974	Homo sapiens (human)	Alliance of Genome Resources
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	MMP9	4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:5223	infertility	ATM BRCA2 CDC23 CDKN1B CSF1R ESR1 METTL3	1027 1436 2099 472 56339 675 8697	Homo sapiens (human)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	CXCR4 DLL4 NOTCH4	4855 54567 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:525	central nervous system vasculitis	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABCB1 ABCE1 ATM C3 CCL11 CCL2 CCL5 CCR2 CCR5 CD163 CD209 CD274 CD40 CD40LG CD68 CR2 CXCR1 CYP2B6 EPHB2 FAS FCGR3A GC HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL10 IL15 IL21 IL21R IL6 KIR3DL1 KIR3DS1 KMT2E LEPR MBL2 MKI67 NEFL NEFM OPRM1 PDCD1 PLA2G2A PLAUR PPIA PRF1 PTGS2 SELP SERPINA1 SOCS3 STING1 TLR3 TNF TREM1	1234 1380 1555 2048 2214 2638 29126 30835 3106 3107 3117 3119 3122 3123 340061 3458 355 3569 3577 3586 3600 3811 3813 3953 4153 4288 472 4741 4747 4988 50615 5133 5243 5265 5320 5329 54210 5478 5551 55904 5743 59067 6059 6347 6352 6356 6403 7098 7124 718 729230 9021 9332 958 959 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:529	blepharospasm	DRD5	1816	Homo sapiens (human)	Alliance of Genome Resources
DOID:5295	intestinal disease	BAX BMPR1A MUC2 NOD2 SLC10A2 SOD2	4583 581 64127 6555 657 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	ESCO1 ESCO2 SEC23A SEC23B	10483 10484 114799 157570	Homo sapiens (human)	Alliance of Genome Resources
DOID:5327	retinal detachment	AIFM1 APOA4 CCL2 CFH COL2A1 EDN1 EPO EPOR FAS FGFR1 IL6 NTRK1 PRKCQ TNF	1280 1906 2056 2057 2260 3075 337 355 3569 4914 5588 6347 7124 9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CLOCK GHRHR IGF1R INSR INSRR NF1 NPSR1 TFAP2B	2692 3480 3643 3645 387129 4763 7021 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:5353	colonic disease Aliases: colon disorder	GHR	2690	Homo sapiens (human)	Alliance of Genome Resources
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	CTNNB1	1499	Homo sapiens (human)	Alliance of Genome Resources
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:5394	prolactinoma Aliases: PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma	BMP4 MYC NPY5R PRL PTGS2	4609 4889 5617 5743 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:540	strabismus	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:5408	Paget's disease of bone Aliases: Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans	INPP5D OPTN SQSTM1 TNFRSF11A TNFRSF11B VCP	10133 3635 4982 7415 8792 8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	ACVR1B APOA1 APOC3 ATM ATRX CDKN1B CHRNA3 CHRNA5 CHRNA9 CHRNB4 CSF1R CYP24A1 DLL4 E2F1 EEF2 FAT1 FOXA1 GRP ITGB1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MTOR NOTCH1 PBRM1 PTK2 RARB RICTOR SKP2 XPO5	1027 1136 1138 1143 1436 1591 1869 1938 2195 2475 253260 2922 3169 335 345 3688 3909 3914 3918 472 4851 54567 546 55193 55584 5747 57510 5915 6502 7403 8085 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:5410	pulmonary neuroendocrine tumor	RNASET2	8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:5418	schizoaffective disorder	GRIA1	2890	Homo sapiens (human)	Alliance of Genome Resources
DOID:5419	schizophrenia Aliases: schizophrenia-1	ACE AGER AKT1 AKT3 ANK3 APOA4 ARPC1A ARPC1B ASH2L ASTN1 ATF2 ATN1 ATP5F1C AVPR1A B3GAT2 BACE1 BCHE BCL11A BRD1 CACNA1D CACNA1I CALY CHI3L1 CHL1 CHRFAM7A CHRM2 CHRNA7 CHST3 CNNM2 CNR1 CNTNAP2 COMT CREB1 CSMD1 CSMD3 CTNND2 CTSC CYFIP1 DNMT1 DRD2 DRD3 DRD4 DTNBP1 EGF EGFR ELFN1 ELK1 ERBB4 FOXP1 FOXP2 FZD3 GAD1 GAD2 GIGYF2 GLUL GNAS GRIA4 GRIK1 GRIN1 GRIN2A GRIN2B GRIN2D GRM2 GRM5 GRM8 GSK3B HIVEP2 HSPA1A HSPA1B HSPA1L HTR2A HTR2C IL10 IMPA2 ITGA8 KCNN3 KDM1A KMO L1CAM LRP8 LRRN3 LRRTM1 MAN2A2 MAP2 MAP6 MBNL1 MBP MDK MED15 MTOR NCAM1 NCSTN NGF NLGN2 NOS1 NOTCH4 NRG1 NRG3 NRXN1 NTRK1 NTRK2 NTSR1 OPA1 OPRM1 PAFAH1B1 PAK1 PDGFRB PIK3CD PLCB1 PPARA PPM1G PPP1R9B PPP3CA PTGS2 RELN RIMS1 RIMS2 RTN4R SBNO1 SETD1A SETDB1 SHMT2 SLC18A1 SLC6A1 SLC6A3 SNAP25 SNCA SP4 SRGAP3 SYN2 SYNGAP1 TAAR1 TAP1 TBP TCF4 TNF TNFRSF11B TPH1 UFD1 VWF YWHAZ ZNF521	10000 10095 10552 10718 1075 10752 1116 1129 1139 114788 1268 1312 134864 135152 1385 1386 1501 1636 177 1786 1813 1814 1815 1822 1950 1956 2002 2066 207 22999 23028 23191 23236 23385 23621 23774 2475 2571 2572 25925 26047 26058 27086 2752 2778 288 2893 2897 2902 2903 2904 2906 2912 2915 2918 2932 3084 3097 3303 3304 3305 3356 3358 337 347730 3586 3613 3782 3897 392617 4122 4133 4135 4154 4155 4192 460 4684 4803 4842 4855 4914 4915 4923 4976 4982 4988 5048 5058 50632 509 51586 5159 5293 53335 5465 54674 54805 5496 552 55206 5530 5649 5743 57555 590 64478 6472 65078 6529 6531 6570 6616 6622 6671 6854 6890 6908 6925 7124 7166 7353 7450 7534 776 7804 7976 84062 84687 8516 8564 8831 8911 89832 9070 9378 93986 9469 9699 9739 9869 9901	Homo sapiens (human)	Alliance of Genome Resources
DOID:5425	ovarian hyperstimulation syndrome Aliases: secondary Meig's syndrome	DRD2 F3 FSHR IL6 KDR NR1H3 SERPINF1 TFPI VEGFA	10062 1813 2152 2492 3569 3791 5176 7035 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 DMRT3 EXO1 KASH5 MEIOB MLH1 MOV10L1 MRPL50 MRPS22 MSH2 MSH4 MSH6 NPM1 NPM2 USP17L3 USP42 VCP WDR33 XPO5	10361 147872 254528 27241 2956 4292 4436 4438 4869 54456 54534 55339 56945 57510 58524 645836 7415 84132 9156 9210	Homo sapiens (human)	Alliance of Genome Resources

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