GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **8551 - 8575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:9538	multiple myeloma Aliases: myeloma	ABCG2 ACE ALB APOE B2M CBL CCN1 CD40 CD40LG CD46 CD86 CFHR1 CHI3L1 CTLA4 CYP1A1 CYP2C19 DSG2 ENG EXOSC2 FASLG FCGR2A FGG FLT3LG FTO GPX1 GPX3 HFE HK1 ICAM1 IGF2R IL10 IL1A IL1RN IL4R IRF4 KRAS MEFV MET MTR NONO NOTCH2 NOX1 NRAS PON1 RANBP2 ROBO1 SOD2 SPARC SPP1 TERT TFRC TGFB1 TNF TNFRSF10A TNFRSF17 TP53 TYMS VEGFA XPO5 XRCC5	1116 1493 1543 1557 1636 1829 2022 213 2212 2266 2323 23404 27035 2876 2878 3077 3078 3098 3383 348 3482 3491 3552 3557 356 3566 3586 3662 3845 4179 4210 4233 4548 4841 4853 4893 5444 567 57510 5903 608 6091 6648 6678 6696 7015 7037 7040 7124 7157 7298 7422 7520 79068 867 8797 942 9429 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:437	myasthenia gravis	ACHE ADRB2 CHRM1 CXCR3 FAS HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2RB MUSK	1128 154 2833 3117 3119 3123 355 3560 43 4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	CHD2 CHD6 CHD7 CHD8 CHD9 SEMA3E TP53	1106 55636 57680 7157 80205 84181 9723	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111028	hemochromatosis type 4 Aliases: HFE4 autosomal dominant hereditary hemochromatosis ferroportin disease hemochromatosis due to defect in ferroportin	SLC40A1	30061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050791	persistent Mullerian duct syndrome Aliases: persistent Muellerian duct syndrome	AMH AMHR2	268 269	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081382	amyotrophic lateral sclerosis type 28	LRP12	29967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia Aliases: Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome	ITGA6 ITGB4	3655 3691	Homo sapiens (human)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACTB ACTC1 NEB	4703 60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081368	Paget's disease of bone 5 Aliases: Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis Juvenile Paget disease Paget disease of bone-5	TNFRSF11B	4982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:4479	pseudohypoaldosteronism	CUL3 NR3C2 SCNN1A SCNN1B SCNN1G WNK1 WNK2 WNK3	4306 6337 6338 6340 65125 65267 65268 8452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2 Aliases: MLASA2	YARS2	51067	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060352	Kleefstra syndrome 1 Aliases: 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome	EHMT1 EHMT2	10919 79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111481	combined oxidative phosphorylation deficiency 11 Aliases: COXPD11 infantile encephaloneuromyopathy due to mitochondrial translation defect	RMND1	55005	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	CAMTA1	23261	Homo sapiens (human)	Alliance of Genome Resources
DOID:4608	common bile duct neoplasm Aliases: neoplasm of common bile duct	APOB FSCN1 MSLN MTAP MUC1 MUC4 MUC5AC TYMP	10232 1890 338 4507 4582 4585 4586 6624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080471	developmental and epileptic encephalopathy 92	GABRB2	2561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110151	Charcot-Marie-Tooth disease type 1C Aliases: CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C	LITAF	9516	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080695	Burn-McKeown syndrome Aliases: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome	TXNL4A	10907	Homo sapiens (human)	Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080419	developmental and epileptic encephalopathy 50 Aliases: CDG syndrome type Iz CDG-Iz Carbohydrate deficient glycoprotein syndrome type Iz Congenital disorder of glycosylation type 1z DEE50 early infantile epileptic encephalopathy 50	CAD	790	Homo sapiens (human)	Alliance of Genome Resources
DOID:10283	prostate cancer Aliases: NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate	ACP3 ACSL3 AFP AGAP2 AGER AKR1C3 AKT1 AKT2 AKT3 ALOX12 ANXA7 APC AR ATF3 AZGP1 BAX BMP2 BMP6 BMP7 BRCA1 BRCA2 CADM1 CBX5 CCNE2 CD44 CD55 CD82 CDC25A CDC25B CDH13 CDH1 CDK13 CHAF1B CHD1 CHD2 CHEK2 CHGA CHUK COMT CTNNA1 CTNNB1 CXCR4 CYP17A1 CYP1A1 CYP51A1 DAXX DNMT1 E2F1 E2F2 EEF2 EGFR EIF3H ELAC2 ENG ENO2 EP300 EPHB1 ERBB2 ERBB3 ERBB4 ESR1 EZH2 FABP5 FAS FGF7 FGFR1 FGFR2 FGFR4 FLT3 FOXO1 FOXO3 GOLM1 GRB2 GRP HDLBP HIF1A HLA-DRB1 HNRNPK HRAS ICAM1 IGF1R IGFBP3 IKBKB IL16 INHA INS JAK1 JUP KDM3A KDM4C KDM5B KDM6A KLK10 KLK13 KLK4 KLK6 KMT2A KMT2B KMT2C KMT2D KMT2E KRAS LEF1 MAGT1 MAP3K7 MAPK7 MEP1A MEP1B MMP13 MMP15 MMP2 MSH2 MSR1 MTOR MUC1 MXI1 MYC MYO6 NBN NCOA1 NCOA2 NCOA3 NCOA4 NFKB1 NOS3 NRAS OGG1 P4HA3 PDGFRB PDPK1 PEBP1 PHF8 PHLPP1 PIK3CB PLAU PNLIPRP1 POLE PON1 PREX1 PRPF8 PTEN PTGS2 PTK2 RAF1 RB1 RBL2 RNASEL SETD5 SETDB1 SIRT1 SKP2 SLCO1B3 SMARCA2 SMARCA4 SNRPE SOS1 SRC SRD5A1 SRD5A2 SREBF2 STAT3 STAT5A STAT6 SULT2A1 TCF3 TERT TFF1 TFF2 TFRC TGFB1 TGFBR2 THBS1 TIMP3 TLR2 TMEFF2 TNF TOP2A TP53 TUSC3 VDAC1 VEGFA WIF1 WNT2 XIAP XRCC1 ZFHX3	10000 1012 10499 10594 10765 1105 1106 1113 11197 11200 1147 116986 1312 1495 1499 1543 1586 1595 1604 1616 174 177 1786 1869 1870 1938 1956 2022 2026 2033 2047 2064 2065 2066 207 208 2099 2146 2171 2181 2252 2260 2263 2264 2308 23081 2309 23133 2322 23239 23411 23468 23671 23705 239 2475 26085 28234 283208 2885 2922 3069 3091 310 3123 3190 324 3265 331 3383 3480 3486 355 3551 3603 3623 3630 367 3716 3728 3732 3845 4224 4225 4297 4313 4322 4324 4436 4481 4582 4601 4609 463 4646 467 4683 4790 4846 4893 4968 5037 51176 51280 5159 5170 5291 5328 5407 5426 5444 55 55209 55818 55904 5598 563 5653 5655 5728 5743 5747 57580 581 58508 5894 5925 5934 6041 60528 650 6502 654 655 6595 6597 6635 6654 6714 6715 6716 672 6721 675 6774 6776 6778 6822 6885 6929 7015 7031 7032 7037 7040 7048 7057 7078 7097 7124 7153 7157 7403 7416 7422 7472 7515 7852 7991 8031 8085 8202 8208 84061 8621 8644 8648 8667 9134 960 9622 9757 9869 993 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111473	combined oxidative phosphorylation deficiency 5 Aliases: COXPD5 hypotonia with lactic acidemia and hyperammonemia	MRPS22	56945	Homo sapiens (human)	Alliance of Genome Resources

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