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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 **4401 - 4425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA PPARG	150 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:4378	peanut allergy Aliases: allergy to peanuts peanut allergic reaction	IL13	3596	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050855	renal fibrosis	ACE ADAM17 AGER CLU CYBB CYP2J2 ECE1 EDNRA ENG FCAR GFER GPR21 GPR52 IFNG KRAS LEPR MMP1 MMP9 PPARGC1A SERPINE1 STAT6 TLR2 TLR4	10891 1191 1536 1573 1636 177 1889 1909 2022 2204 2671 2844 3458 3845 3953 4312 4318 5054 6778 6868 7097 7099 9293	Homo sapiens (human)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	A2M AAK1 ABL1 ACHE ACO2 ADCY5 ADH7 AFDN AGTR1 AKT1 AKT2 AKT3 ANXA5 APOA1 APOE ATG9A ATG9B ATM ATP13A2 ATP13A3 ATP13A5 B2M BDNF BMP2K CALR3 CALR CASP9 CAST CCK CCN2 CHRNB3 CREB1 CYP1A1 DBH DBN1 DLG1 DNAJC13 DNM1L DRD1 DRD2 DRD3 DRD5 EGF EGFR EIF2AK2 EIF4G1 EIF4G2 EIF4G3 EPHX2 EPO ERBB2 FAS FASLG FBXO7 FDXR FOXO1 FOXO3 FOXO4 GAK GBA1 GDF5 GDNF GIGYF2 GJC2 GLRX GPI GPR37 GRK3 GRN GSK3B GSTO1 GSTO2 HBB HCN3 HDAC6 HIPK1 HIPK2 HIPK3 HLA-DRA HLA-DRB1 HMGCR HSF1 HSPA4 HSPA8 HSPA9 HSPD1 HTR1A HTT IGF1R IGF2 INSR INSRR KLK6 LEP LRRK1 LRRK2 MAP2K3 MAP2K6 MAPK14 MAPK9 MAPT MINAR2 MXI1 ND3 NDUFB8 NEFL NGFR NOS1 NOX1 NPBWR1 NPBWR2 NR4A1 NTSR1 NUS1 OGG1 OPRD1 OPRK1 OPRL1 OPRM1 OPTN PAK4 PAK5 PARK7 PARP1 PGK1 PGK2 PHACTR2 PINK1 PISD PLA2G6 PPARGC1A PPARGC1B PPP1R9B PPRC1 PRKAA1 PRKAA2 PRLHR PTCH1 PTCH2 PTGIS PTPRN2 PTPRN RTCB SDHA SEC22B SERPINF1 SIRT1 SLC11A2 SLC17A6 SLC17A8 SLC18A2 SLC40A1 SNCA SNCB SNCG SOD1 SOD2 SPCS2 SRRM2 SSTR1 SSTR2 SSTR3 SSTR4 SSTR5 SYNJ1 SYNJ2 TARDBP TFAM TOR1A TOR1B TOR2A TOR3A TPPP3 TPPP TSPAN3 TSPAN7 VDAC1 VPS13A VPS13C YIF1B	10000 100127206 10013 10059 10099 10114 10133 10298 10891 11076 111 11315 1142 116150 119391 120892 125972 131 133522 1385 142 1432 1490 1543 157 1621 1627 1739 1812 1813 1814 1816 185 1861 1950 1956 1981 1982 2 204851 2053 2056 2064 207 208 2232 22848 2308 23082 2309 23230 23317 23400 23411 23435 23524 23761 246213 25 25793 2580 26058 2629 2668 27035 27348 27433 2745 2821 2831 2832 2834 285973 2861 2896 28996 2932 30061 3043 3064 308 3122 3123 3156 3164 3297 3308 3312 3313 3329 335 3350 344905 348 3480 3481 355 356 3643 3645 3952 4137 43 4301 4303 4537 4601 4714 472 4747 4804 4842 4891 4923 4968 4985 4986 4987 4988 50 51493 51673 5176 5230 5232 54832 55589 5562 5563 5601 5606 5608 5610 5653 567 57084 57144 57165 5727 5740 57657 5798 5799 627 6389 64222 65018 6571 6620 6622 6623 6647 6648 6751 6752 6753 6754 6755 7019 7102 7416 79065 79572 79705 811 8200 831 8398 842 84687 8643 8672 885 8867 8871 90522 9446 9554 9749 9789	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110831	Usher syndrome type 1D Aliases: USH1D Usher syndrome type ID	CDH23 PCDH15	64072 65217	Homo sapiens (human)	Alliance of Genome Resources
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44	960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080652	calcium oxalate nephrolithiasis	AMBP CASR F2 FN1 IL1RN OXGR1 SLC26A1	10861 2147 2335 259 27199 3557 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:11396	pulmonary edema	ADRB2 AGT ALOX5 CCL2 IL13 NOS2 NOS3 SFTPA1 SGMS1 TNF VEGFA	154 183 240 259230 3596 4843 4846 6347 653509 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111683	neurofibromatosis-Noonan syndrome Aliases: NFNS Noonan neurofibromatosis syndrome neurofibromatosis type 1-Noonan syndrome neurofibromatosis with Noonan phenotype	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050920	tonsil squamous cell carcinoma	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111546	Currarino syndrome Aliases: Currarino triad	MNX1	3110	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060903	thrombosis	ACE2 APOH C5AR1 CD40LG F11 F2 F3 F5 FCGR2A FGB HRG ITGA2 ITGAM MMP1 MMP3 MMP9 P2RY12 PIK3CB PLAU PROC SERPINC1 SERPINE1 TBXAS1 VTN	2147 2152 2153 2160 2212 2244 3273 350 3673 3684 4312 4314 4318 462 5054 5291 5328 5624 59272 64805 6916 728 7448 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111402	mucopolysaccharidosis type IIID Aliases: GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D	GNS SGSH	2799 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081102	familial gestational hyperthyroidism	TSHR	7253	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2 Aliases: COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2	MLH1	4292	Homo sapiens (human)	Alliance of Genome Resources
DOID:3450	cutaneous Paget's disease Aliases: Paget's disease of skin cutaneous Paget disease extramammary Paget's disease	PIK3CA	5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070016	autosomal dominant dyskeratosis congenita 2 Aliases: DKCA2	TERT	7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110317	hypertrophic cardiomyopathy 11 Aliases: CMH11 cardiomyopathy familial hypertrophic 11	ACTB ACTC1	60 70	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:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	PRPSAP1	5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH3A	3419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6	126792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080911	cerebrooculofacioskeletal syndrome 1	ERCC6	2074	Homo sapiens (human)	Alliance of Genome Resources

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