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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 **976 - 1000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:10123	pigmentation disease	ASIP ELN HERC2 IRF4 KITLG MC1R MMP9 OCA2 SLC24A4 SLC45A2 TPCN2 TYR TYRP1	123041 2006 219931 3662 4157 4254 4318 434 4948 51151 7299 7306 8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb Aliases: Proximal 16p11.2 microdeletion syndrome	ASPH ATXN2 ATXN2L CDIPT DOC2B KIF3C PAGR1 PPP4C TAOK1 TAOK2 TBX6	10423 11273 3797 444 5531 57551 6311 6911 79447 8447 9344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	ASPM DYNC1I2 KIF14 KNL1 LMNB1 LMNB2 NCAPD2 NCAPD3 PDCD6IP TRAPPC14 WDR62	10015 1781 23310 259266 284403 4001 55262 57082 84823 9918 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070280	primary autosomal recessive microcephaly 5 Aliases: MCPH5	ASPM	259266	Homo sapiens (human)	Alliance of Genome Resources
DOID:4239	alveolar soft part sarcoma	ASPSCR1	79058	Homo sapiens (human)	Alliance of Genome Resources
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ASS1 SLC25A12 SLC25A13	10165 445 8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070340	classic citrullinemia	ASS1	445	Homo sapiens (human)	Alliance of Genome Resources
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	ASXL1 CALR CDC42 EZH2 FLT3 FLT3LG HFE KMT2A MPL NCOR2 TGFB1 TP53	171023 2146 2322 2323 3077 4297 4352 7040 7157 811 9612 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	ASXL1 CBL CSF3R PDGFRB TET2	1441 171023 5159 54790 867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080188	chronic myelomonocytic leukemia	ASXL1 CSF3R EZH2 KDM6A TET2	1441 171023 2146 54790 7403	Homo sapiens (human)	Alliance of Genome Resources
DOID:4797	SM-AHNMD Aliases: systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	ASXL1	171023	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080893	Bainbridge-Ropers syndrome Aliases: ASXL3-related disorder	ASXL3	80816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080581	hyperekplexia 4	ATAD1	84896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081396	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome Aliases: PHRINL syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081395	Harel-Yoon syndrome Aliases: Ocular anomalies-axonal neuropathy-developmental delay syndrome	ATAD3A	55210	Homo sapiens (human)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ATAD5 KDR PECAM1 SERPINE1 SIX1 SNCA	3791 5054 5175 6495 6622 79915	Homo sapiens (human)	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ATF2 BMPR1B CEBPB CHST3 COL10A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP DYM FLNA FLNB GOLGB1 HSPG2 LIFR MATN3 NPPC PTH1R RNF146 RYR1 SLC26A2 TGFB1 TGFB2 TGFBR1 TRPS1	1051 1280 1297 1298 1299 1300 1302 1311 1386 1836 2316 2317 2804 3339 3977 4148 4880 54808 5745 6261 658 7040 7042 7046 7227 81847 9469	Homo sapiens (human)	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	ATF2 CREB1 FOS MAP2K6 MAPT SNCA SNCB TARDBP	1385 1386 23435 2353 4137 5608 6620 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4 EIF2AK2 EIF2AK3 KCNK3	3777 468 5610 9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110009	achromatopsia 7 Aliases: ACHM7	ATF6	22926	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ATG26 BPT1	850645 850886	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ATG26 BUD2 CTS2 CYC8 IDP2 IDP3 PBS2 PKH3 SNF2 STE13 STE6 SYT1	850871 850886 851977 852077 852410 853313 853671 853770 854394 854465 855723 856210	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ATG26 CBR1 CTS2 CYC8 DPM1 GCY1 GIS1 IZH1 OGG1 PBS2 PEP4 RHO1 SET3 SNF2 SNT1 STE20 TRE1 TRE2 VPS70 YPR1	850399 850886 851670 851974 851977 852102 852410 853313 853590 853900 854287 854430 854465 854768 854942 855927 855949 856294 856313 856382	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ATG26 CIT1 CIT2 CIT3 GLR1 KEX2	850361 850886 855483 855732 856014 856107	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ATG26 CTS2 MCM4 PGM1 PGM2	850886 851977 853732 855131 856130	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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