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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 **10526 - 10550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110824	hereditary spastic paraplegia 9A Aliases: AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FANCD2	2177	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110751	type 1 diabetes mellitus 12 Aliases: IDDM12 Insulin-Dependent Diabetes Mellitus 12	CTLA4	1493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110445	dilated cardiomyopathy 1KK Aliases: CMD1KK	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060249	scoliosis	ADAMTS9 FBN1 FBN2 FGFR3 MMP1 PTK7 TBX6 TPH1	2200 2201 2261 4312 56999 5754 6911 7166	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR	23600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111042	glycogen storage disease IXa Aliases: GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa	PHKA2	5256	Homo sapiens (human)	Alliance of Genome Resources
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ACADS ACSS2 ACTL6A ADCY1 ADCYAP1R1 ADGRF3 ADH5 ADRA1A ADRA1B ADRA1D AKT1 AKT2 AKT3 ALDH2 ALYREF ANGPT1 ANGPT2 ANGPT4 ANGPTL3 ANGPTL4 ANGPTL6 ARID1A ARID2 ATF1 ATP1A1 ATP1A2 AUTS2 BDNF BRD7 CALB1 CAMK4 CAST CAT CDC5L CFL1 CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA6 CHRNB1 CHRNB2 CHRNB3 CHRND CHRNE CHRNG CIZ1 CLIC1 CLOCK CNR1 COMT CREB1 CREBBP CTSL CTSV CYP2E1 DBH DDX17 DRD1 DRD2 DRD3 DRD4 DRD5 EGFR EP300 EPS8 EPS8L2 ERBB2 ERBB3 ERBB4 FADS1 FADS2 FBRSL1 FMR1 FOS FOSB GABBR2 GABRA2 GABRB3 GAD1 GAD2 GDNF GHRHR GIPR GLP1R GPR21 GPR52 GRIA1 GRIN1 GRIN2B GRK1 GRK7 GSTO1 GSTO2 HDAC2 HOMER2 HTR1A HTR1B HTR2A HTR2C HTR3B HTR7 IGF2 IL10 JMJD1C KCNMA1 KCNU1 KDM3A KDM3B KDM4C KDM5B KDM6A KDM6B MADD MAOA MKI67 MLXIP MLXIPL MMP2 MMP9 NCAM1 NGF NOTCH1 NOTCH2 NOTCH3 NPY5R NR3C2 NRG1 NTF3 NTRK2 OPRD1 OPRK1 OPRL1 OPRM1 PBRM1 PCSK2 PDPK1 PIK3CB PIK3CD POMC PPP1R3B PPP1R3C PRKACB PRKCA PRKCH PRLHR PSD RAB3B RAC1 RAC2 RAC3 RASA1 RBPJ RPL18A RYR1 RYR2 RYR3 SHMT1 SHMT2 SIRT1 SLC32A1 SLC6A4 SMARCA2 SMARCA4 SMARCC1 SMARCC2 SMARCD1 SMARCD2 SOD1 SOX2 SREBF1 SREBF2 SRRM2 SSH2 ST6GAL1 STXBP1 STXBP2 SYP TIMELESS TPH1 UNC13A UNC13B UNC79 UTY VIPR1 VIPR2	10000 10189 10497 10521 107 1072 10765 1134 1135 1136 1137 1140 1141 1142 1144 1145 1146 117 1192 119391 1268 128 1312 131890 1385 1387 140679 146 147 148 1514 1515 1571 157855 1621 165082 1812 1813 1814 1815 1816 1956 196528 2033 2059 2064 2065 2066 207 208 217 221037 22877 23025 23081 23135 2332 23411 23524 2353 2354 2555 2562 2571 2572 25792 26053 2668 2692 2696 27329 2740 2834 284 2844 285 2890 2902 2904 29117 3066 3084 3350 3351 3356 3358 3363 3481 35 3516 3586 3778 3992 4128 4288 4306 4313 4318 466 4684 476 477 4803 4851 4853 4854 4889 4908 4915 4985 4986 4987 4988 51085 51129 5126 51378 5170 51780 5291 5293 5443 5507 55193 5567 5578 55818 5583 55902 5662 57578 57666 5865 5879 5880 5881 5921 6011 6142 6261 6262 6263 627 6470 6472 64787 6480 6532 6595 6597 6599 6601 6602 6603 6647 6657 6720 6721 6812 6813 6855 7166 7403 7404 7433 7434 793 79660 814 8289 831 83854 847 85464 8567 86 8914 8973 9177 9293 9415 9446 9455 9568 9575 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070480	schwannomatosis 1 Aliases: SMARCB1-related schwannomatosis SWN1	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080546	non-alcoholic fatty liver Aliases: NAFL nonalcoholic fatty liver	CCL5 GGT1 HTR2A HTR2B NGF	2678 3356 3357 4803 6352	Homo sapiens (human)	Alliance of Genome Resources
DOID:1475	lymphangioma Aliases: Congenital lymphangioma benign lymphangioma	FLT4 KDR	2324 3791	Homo sapiens (human)	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses Aliases: Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas	EXT1 EXT2 EXTL1 EXTL3	2131 2132 2134 2137	Homo sapiens (human)	Alliance of Genome Resources
DOID:319	spinal cord disease	IL6	3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090016	chromosome 5q deletion syndrome Aliases: 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	RPS14	6208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GANAB PKD1 PRKCSH SEC63 UCP2	11231 23193 5310 5589 7351	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)	Alliance of Genome Resources
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	PTGS2	5743	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	EZH2	2146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110021	age related macular degeneration 9 Aliases: ARMD9	C3	718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111424	branchiootorenal syndrome 2 Aliases: BOR2	SIX5	147912	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070415	brachycephaly, trichomegaly, and developmental delay Aliases: BTDD MCINS Macinnes syndrome	RPS23	6228	Homo sapiens (human)	Alliance of Genome Resources
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	CTNS LRP2 SLC34A1	1497 4036 6569	Homo sapiens (human)	Alliance of Genome Resources

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