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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 **826 - 850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0110800	hereditary spastic paraplegia 48 Aliases: SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48	AP5Z1	9907	Homo sapiens (human)	Alliance of Genome Resources
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	APC APOB APOE BUB1B CALR CCR5 CYP17A1 CYP1A1 DPYD EGF GLI1 JUNB KEAP1 LRP1B RBP4 RICTOR XRCC1	1234 1543 1586 1806 1950 253260 2735 324 338 348 3726 53353 5950 701 7515 811 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	APC AURKB BSG CD82 CDH13 ERAP1 FGF7 GRB2 GSK3B HDAC3 HRAS JUN MMP8 MMP9 NCOA1 NCOR2 NOS3 POLE PRKCA PTGS1 PTK2 RUNX3 SFN SMAD4 SPARC TFF1 TIMP1 TP53 WNT2 WNT4 WNT5A	1012 2252 2810 2885 2932 324 3265 3725 3732 4089 4317 4318 4846 51752 5426 54361 5578 5742 5747 6678 682 7031 7076 7157 7472 7474 864 8648 8841 9212 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	APC BRCA2 CTNNB1 GPR161 IFNG KDM4C PDGFRA PTCH1 PTCH2 SMO TP53 TSC2	1499 23081 23432 324 3458 5156 5727 6608 675 7157 7249 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	APC EFEMP1 NCAM1	2202 324 4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	APC IHH MUTYH PLCG1	324 3549 4595 5335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111349	hereditary desmoid disease Aliases: FIF familial infiltrative fibromatosis	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:3025	acinar cell carcinoma Aliases: acinic cell carcinoma	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080409	familial adenomatous polyposis 1	APC2 APC	10297 324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090131	complex cortical dysplasia with other brain malformations Aliases: CDCBM	APC2 CAMSAP1 FOXP1 HCN1	10297 157922 27086 348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081218	autosomal recessive intellectual developmental disorder 74	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112104	Sotos syndrome 3 Aliases: SOTOS3	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	APCDD1 SNRPE	147495 6635	Homo sapiens (human)	Alliance of Genome Resources
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	APEX1 BIRC2 BRCA1 BSG CD55 CDC25A CDH13 ERBB4 HLA-B HLA-DPB1 HLA-DQB1 HNRNPC HRAS HSPA8 IL10 KDM3A KMT2A KMT2E KRAS MAP2K3 MAP2K6 MDC1 MMP13 MMP1 NRAS PGM3 PTK2 PTPN11 PTPN6 SF3B4 SMAD4 SOS1 TAP1 TNF TNFRSF10A XRCC1 ZFHX3	1012 10262 1604 2066 3106 3115 3119 3183 3265 328 329 3312 3586 3845 4089 4297 4312 4322 463 4893 5238 55818 55904 5606 5608 5747 5777 5781 6654 672 682 6890 7124 7515 8797 9656 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:2893	cervix carcinoma Aliases: cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri	APEX1 CD9 EFEMP2 ERAP1 FGFR3 MGMT PTGS1 PTK2 SPARC TK1	2261 30008 328 4255 51752 5742 5747 6678 7083 928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080016	spina bifida	APEX1 GLI1 GLI2 MTHFD1 MTR PTCH1 RNF2 SUZ12	23512 2735 2736 328 4522 4548 5727 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	APL5 APL6	853177 855906	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:2223	platelet storage pool deficiency Aliases: Dense body defect Platelet dense granule deficiency Platelet storage pool defect	APL5 APL6	853177 855906	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060540	Hermansky-Pudlak syndrome 2	APL5 APL6	853177 855906	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060539	Hermansky-Pudlak syndrome 1	APL5	855906	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	APL6 CTS2	851977 853177	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3082	interstitial lung disease Aliases: ILD	APL6	853177	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1227	neutropenia	APL6	853177	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080448	developmental and epileptic encephalopathy 48 Aliases: DEE48 early infantile epileptic encephalopathy 48	APL6	853177	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early onset	APLP1 APLP2 APP KLC2 KLC4 MPO PLAU	333 334 351 4353 5328 64837 89953	Homo sapiens (human)	Alliance of Genome Resources

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