GlyCosmos Portal

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

Displaying entries **8651 - 8675** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050774	rapadilino syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	CIITA	4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	COL17A1 ITGB4 LAMA3 LAMB3 LAMC2	1308 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:10762	portal hypertension	ALOX5 ANGPT2 AVP AVPR1A BDKRB2 CCL2 CPEB1 CPEB4 CX3CL1 DBH EDN1 EDNRA EDNRB F5 FGFR2 HSP90AA1 MTOR NGFR NOS1 NOS3 NR1D1 PRL PTEN PTGS2 REN SERPINF1 TMEM67 TNF VASH1 VEGFA	1621 1906 1909 1910 2153 2263 22846 240 2475 285 3320 4804 4842 4846 5176 551 552 5617 5728 5743 5972 624 6347 6376 64506 7124 7422 80315 91147 9572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110640	congenital muscular dystrophy due to LMNA mutation Aliases: L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	AKAP6 ASPM BRD7 CCR3 DAXX FUBP1 KIF1B NME1 PLK1 PLK3 PTGES RUNX3 SPARC SRSF3 TAB2	1232 1263 1616 23095 23118 259266 29117 4830 5347 6428 6678 864 8880 9472 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050792	multiple cutaneous and mucosal venous malformations Aliases: VMCM cutaneomucosal venous malformation mucocutaneous venous malformations	TEK	7010	Homo sapiens (human)	Alliance of Genome Resources
DOID:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	AURKB HES1 L3MBTL1 L3MBTL4 LLGL1 LLGL2 MYC NOTCH1 NOTCH2 NOTCH3 NUMBL TERT VPS26A	26013 3280 3993 3996 4609 4851 4853 4854 7015 91133 9212 9253 9559	Homo sapiens (human)	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	AP3B1 BDNF CCL2 CCR2 CCR5 CD28 CMA1 HGF IL1A IL1RN IL2 IL4R KIT MMP9 MPO MUC1 NGF NOS2 NR3C1 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TLR9	1215 1234 2908 3082 3552 3557 3558 3566 3815 4318 4353 4582 4803 4843 5054 54106 627 6347 6439 6440 6441 653509 7040 729230 8546 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:5572	Beckwith-Wiedemann syndrome	SPTBN1	6711	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	FAM20A	54757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050809	mucopolysaccharidosis IX	HYAL1	3373	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:3429	inclusion body myositis	CCR2 CD36 CLU DAG1 FAS MYH15 MYH1 MYH7 SOD2 VCP	1191 1605 22989 355 4619 4625 6648 729230 7415 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110365	retinitis pigmentosa 28 Aliases: RP28	FAM161A	84140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	TCF20	6942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080630	B-lymphoblastic leukemia/lymphoma Aliases: B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia	ABL1 AKR1C3 BRD2 CYP3A5 F13A1 F3 FLT3 IKZF1 STAT5A TFPI TNFSF13 TP53	10320 1577 2152 2162 2322 25 6046 6776 7035 7157 8644 8741	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080460	developmental and epileptic encephalopathy 34 Aliases: DEE34 early infantile epileptic encephalopathy 34	SLC12A5	57468	Homo sapiens (human)	Alliance of Genome Resources
DOID:3426	vestibular disease Aliases: Vertigo, vestibular disorder	KCNA10	3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:1289	neurodegenerative disease Aliases: degenerative disease	ACO2 AIMP1 APLP2 BCL11A BCL11B CAT CLEC16A DEGS1 DEGS2 DVL1 DVL3 DYNC1H1 EPO FAT4 FIG4 FUS GC GGA2 GGA3 GRIA1 GRIA2 GRIA3 GRIA4 GRIK1 GRIK2 GRIK3 GRIN1 HNRNPA1 HNRNPA1L2 HNRNPA2B1 HNRNPA3 HPDL HTT KIF5B LATS1 LATS2 LRRK2 MAPT MARK2 MARK3 MARS2 MEGF10 MEGF11 MTMR10 MTMR11 NFKB1 NFKB2 NPLOC4 NRDC NUP50 PACSIN2 PEAR1 PLA2G6 PNPLA6 PNPLA7 PON1 PON2 PON3 PRKAG2 PRKAG3 PSMA3 PSMA5 PSMB1 PSMC4 PSMD2 PTCH1 PTCH2 RASA1 RHOA RHOB RHOC SARM1 SCNN1A SCNN1B SCNN1D SCNN1G SDHA SLC17A6 SLC17A8 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7 STK4 TARDBP TBP TPI1 TRAK1 TRAK2 TRPC4 TRPC5 TSPAN3 TSPAN7 UBQLN1 UBQLN2 UBQLN4 UBR1 UFD1 VAPA VAPB VCP YAP1 YBX2	10099 10413 10762 10903 10908 11252 120892 123099 144983 1778 1855 1857 197131 2011 2056 220988 22906 23062 23098 23163 23274 23435 246213 2521 2638 26524 2890 2891 2892 2893 2897 2898 2899 2902 29978 29979 3064 3178 3181 334 375033 375775 3799 387 388 389 4137 4140 4790 4791 4898 50 51087 51422 53335 53632 5444 5445 5446 54893 55666 5684 5686 5689 56893 5704 5708 57084 5727 5921 6337 6338 6339 6340 6389 64919 6505 6506 6507 6509 6510 6511 6512 66008 6789 6908 7102 7167 7223 7224 7353 7415 79633 8398 84465 84466 847 84842 8560 8643 9113 9217 9218 9255 92935 9896	Homo sapiens (human)	Alliance of Genome Resources
DOID:13252	mesenteric vascular occlusion	ICAM1 TREM1	3383 54210	Homo sapiens (human)	Alliance of Genome Resources
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	IL6	3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	PYCR1 PYCR2	29920 5831	Homo sapiens (human)	Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	BCHE GPHN HSD11B2 LIG1 MMAB NDUFS1 SLC22A5 SLC25A19	10243 326625 3291 3978 4719 590 60386 6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070046	Coffin-Siris syndrome 4 Aliases: CSS4 MRD16 autosomal dominant mental retardation 16	SMARCA4	6597	Homo sapiens (human)	Alliance of Genome Resources

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