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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 **1051 - 1075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	CNPY3	10695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110501	autosomal recessive nonsyndromic deafness 44 Aliases: DFNB44 autosomal recessive deafness 44	ADCY1	107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6 Aliases: HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance	Fbxo38	107035	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	CETP	1071	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	A2M ACAT1 ACE ALB ALOX5 APOA1 APOB APOC2 APOC3 APOE CD2AP CFI CFL1 COQ2 COQ6 CPB2 CTSL CTSV DGAT1 ECE1 EDNRA EPO FAT1 GAPVD1 GP1BA GPAM GPX1 GPX3 IGFALS IL1RN IL4 IL5 ITSN2 KCNJ1 KIRREL1 KIRREL2 KIRREL3 LIPC NOS1 NPHS1 NPHS2 NR3C1 PLA2G7 PLCE1 PPARGC1A PTGS2 SCNN1A SCNN1B SERPINC1 SGPL1 SH3KBP1 SOAT2 SOD2 STOM TFPI TNFRSF11B VLDLR	1072 10891 1361 1514 1515 1636 1889 1909 2 2040 2056 213 2195 23607 240 26130 27235 2811 2876 2878 2908 30011 335 338 3426 344 345 348 3483 3557 3565 3567 3758 38 3990 462 4842 4868 4982 50618 51004 51196 55243 5743 57678 6337 6338 6648 7035 7436 7827 7941 84063 8435 84623 8694 8879	Homo sapiens (human)	Alliance of Genome Resources
DOID:5199	ureteral obstruction	ABL1 ACE ADAMTS1 ADCY6 ADM AKT1 AVPR2 B2M CASP7 CASP9 CAT CCL11 CCN2 CFL1 COL1A1 COL1A2 CYP2J2 DRD1 EDN1 FN1 GFER HSD11B2 HSPA5 ICAM1 IFNG IL1RN IRF5 KEAP1 LUM MTOR NPPA PAK2 PARP1 PDGFB RELB SERPINE1 SKIL TNF TNFRSF1A TNFRSF1B	1072 112 1277 1278 133 142 1490 1573 1636 1812 1906 207 2335 2475 25 2671 3291 3309 3383 3458 3557 3663 4060 4878 5054 5062 5155 554 567 5971 6356 6498 7124 7132 7133 840 842 847 9510 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ADAMTSL2 AGER AGT AKT1 BAD BAX CFL1 CNR1 EDN1 EDNRA HDAC3 HDAC4 IGFBP3 IL6 KDR MCAM NOS1 NOS2 NOS3 P2RY1 P2RY2 PDE5A PRKG1 SIRT1 TGFB1 THBD TNF XRCC1	1072 1268 177 183 1906 1909 207 23411 3486 3569 3791 4162 4842 4843 4846 5028 5029 5592 572 581 7040 7056 7124 7515 8654 8841 9719 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050562	West syndrome	ABAT CFL1 MC2R STXBP1	1072 18 4158 6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:4948	gallbladder carcinoma Aliases: cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder	ABO ANTXR1 CFL1 CLPTM1L GPX3 IL10 PTCH1 RAC1 TERT TGFA TJP1 TYMP UBR5	1072 1890 28 2878 3586 51366 5727 5879 7015 7039 7082 81037 84168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050731	vitamin B12 deficiency Aliases: cobalamin deficiency hypocobalaminemia	CALR CBS CD40LG CFL1 FUT2 GPX3 MTR PON1	1072 2524 2878 4548 5444 811 875 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110934	nemaline myopathy 7 Aliases: NEM7 nemaline myopathy 7, autosomal recessive	CFL1	1072	Homo sapiens (human)	Alliance of Genome Resources
DOID:11457	brain compression	CFL1	1072	Homo sapiens (human)	Alliance of Genome Resources
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	Aars1 Cadm3 Fbln5 Itpr3 Jag1 Mpz Mtmr1 Mtmr9 Nefl Pmp22 Slc12a6 Tnfrsf11b Yars1	107271 107723 16440 16449 17528 18039 18383 18858 210376 234734 23876 53332 94332	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:162	cancer Aliases: malignant neoplasm malignant tumor primary cancer	Acap2 Akt1 Akt2 Akt3 Alk Araf Arid1a Braf Bub3 Cand1 Cd53 Cds2 Ctnnb1 Cux1 Depdc5 Dlg1 Dlg2 Dlg4 Dll1 Dll4 Dst Esrrb Esrrg Flt1 Flt3 Flt4 Gdi1 Get3 Gpsm1 Hacd1 Hacd2 Hsp90aa1 Hsp90ab1 Idh1 Idi1 Itga3 Itga6 Itga7 Itgb1 Itgb2 Itgb3 Itgb5 Itgb6 Itgb7 Jup Kank2 Kdr Kras Lats1 Ltk Lyn Map2k1 Mtor Myc Mycn Ndc80 Nipbl Notch1 Notch2 Notch3 Parva Pdgfra Pgk1 Pgk2 Pgm3 Phc1 Phc3 Pigz Pik3cb Pip4k2a Pip4k2b Pip5k1c Pold2 Ppp1ca Ppp1cb Ppp1cc Psma1 Psmc2 Psmc5 Rbbp6 Rbl1 Rbl2 Ret Setd2 Shmt1 Shmt2 Sin3a Smarca4 Smarcc1 Smarcc2 Sod2 Src Tbx3 Top1 Top2a Top2b Tpi1 Trip12 Trp53 Tspan14 Tspan17 Tspan5 Ugp2 Vps36 Wwtr1 Yap1 Yars1 Yes1	107271 108037 108083 109785 109880 110911 11651 11652 11682 11836 12237 12387 12508 13047 13383 13385 13388 13518 13619 14254 14255 14257 14567 14897 15516 15519 15926 16400 16403 16404 16412 16414 16416 16419 16420 16421 16480 16542 16653 16798 17005 17096 17869 18109 18128 18129 18131 18595 18655 18663 18717 18718 18972 19045 19046 19047 19181 19184 19647 19650 19651 19713 20425 20466 20586 20588 20656 20779 21386 216558 21969 21973 21974 21991 22059 22601 22612 235041 235626 23797 23859 239827 241915 26380 26381 26395 26440 277854 30963 319554 52588 54485 56224 56495 56717 57342 67052 67839 68094 70160 70757 71175 71902 74257 74769 78618 93760 97064	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	Ctss Mpz Yars1	107271 13040 17528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:070355	multisystem proteinopathy	Yars1	107271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	Yars1	107271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	EGF MGMT PTGES3 RB1	10728 1950 4255 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111436	optic atrophy 11 Aliases: OPA11	YME1L1	10730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	Gbf1	107338	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080865	primary ovarian insufficiency 8	STAG3	10734	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112350	spermatogenic failure 61 Aliases: SPGF61	STAG3	10734	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	MFAP4 RAI1	10743 4239	Homo sapiens (human)	Alliance of Genome Resources

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