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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 **5126 - 5150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:1074	kidney failure Aliases: renal failure	AMBP CD80 DRD1 EDN1 GFER GRP HIF1A KL MT1E MT1H MT2A NAMPT NPHS1 PARP1 PHEX PPARGC1A RHCG SERPINF1 SLC22A2 SLCO4C1 SPP1 TBXA2R TLR2 TLR4 TNFRSF1B	10135 10891 142 1812 1906 259 2671 2922 3091 353189 4493 4496 4502 4868 51458 5176 5251 6582 6696 6915 7097 7099 7133 9365 941	Homo sapiens (human)	Alliance of Genome Resources
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	AKAP12 BRCA2 CBL CDC5L CHEK2 CXCR4 DDR1 E2F1 EFEMP2 EGR1 EZH2 HSD17B10 IL3 MSH2 MSH6 PTPRB RB1 SERPINF1 TP53	11200 1869 1958 2146 2956 30008 3028 3562 4436 5176 5787 5925 675 7157 780 7852 867 9590 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	HIF1A	3091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	CTH	1491	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060817	syndromic X-linked intellectual disability 34 Aliases: MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type	NONO	4841	Homo sapiens (human)	Alliance of Genome Resources
DOID:13767	clonorchiasis Aliases: Oriental liver fluke disease	FAS FASLG	355 356	Homo sapiens (human)	Alliance of Genome Resources
DOID:2994	germ cell cancer Aliases: malignant tumor of the germ cell	SNRPA SNRPB2	6626 6629	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	FGFR3 HRAS NRAS PIK3CA	2261 3265 4893 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:9938	dacryocystitis	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050634	alopecia universalis Aliases: ALOPECIA UNIVERSALIS CONGENITA	IL4	3565	Homo sapiens (human)	Alliance of Genome Resources
DOID:4549	extraskeletal myxoid chondrosarcoma Aliases: Myxoid extraosseous chondrosarcoma extraosseous chondrosarcoma	NR4A3	8013	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070111	Niemann-Pick disease type A	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABCB1 ADAM28 ADGRB1 AGER AKT1 ANXA1 ANXA2 AR AREG CCL5 CD44 CLU CRKL DLG1 EZH2 FOXC1 HIF1A HSD17B1 IL13 INHA JUP KIT MAP2K4 MET MMP13 NCOA4 NEFL NTRK3 PCNA RAD50 RUNX3 SOCS3 TMBIM6 UBR5 VEGFC WIF1 XRCC1	10111 10863 11197 1191 1399 1739 177 207 2146 2296 301 302 3091 3292 3596 3623 367 3728 374 3815 4233 4322 4747 4916 5111 51366 5243 575 6352 6416 7009 7424 7515 8031 864 9021 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081209	autosomal recessive intellectual developmental disorder 45	FBXO31	79791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080326	familial hypertrophic cardiomyopathy	ALPK3 CORIN FHOD3 MYBPC3 MYH15 MYH1 MYH7 MYL9	10398 10699 22989 4607 4619 4625 57538 80206	Homo sapiens (human)	Alliance of Genome Resources
DOID:1793	pancreatic cancer Aliases: Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor	A4GNT ABCC2 ABCC3 ABCC5 ABO ACVR1 ACVR1B ACVR2A ADAM15 ADAM9 ADGRE5 ADH1C ADM AGER AGTR2 AHR AKT1 ALB ALDH1A1 ALDH2 ALOX5 ANXA1 APC APOA1 APOE ARPC1A ARTN ATM ATR B3GALT5 BAD BAG3 BAG4 BRCA1 BRCA2 BUB1B CACYBP CAP1 CAPN10 CASP9 CAT CCKAR CCKBR CCR4 CDC42 CFTR CHEK1 CYP17A1 DPYD E2F1 EGF EGFR EIF4A3 EPHA3 EZH2 FANCG FASLG FLT3LG FSCN1 GDNF GNAS HGF HS3ST2 HSPB1 ICAM1 IFNG IGF1R IL10 IL13 IL13RA2 IL1A IL2 IL3 IL4 IL4R IL6 INS ITGA11 ITGA4 ITGA9 KDR KRAS L1CAM LIG3 LUM MAP2K4 MET MGAT4A MGMT MKI67 MMP2 MMP9 MPO MSLN MTAP MTOR MTR MUC16 MUC1 MUC4 MUC5AC MUC6 NCAM1 NGFR NOS2 NTRK1 NUF2 OGG1 PALB2 PALLD PDGFRA PFN1 PPARD PPARG PTCH1 PTGS2 RECQL RELA RET RUNX3 SEL1L SERPINA1 SF3B4 SLCO2B1 SMAD4 SMO SNCG SNW1 SOD1 SOD2 SPP1 TGFA TGFB1 TGFBR2 THBS1 TP53 TYMP UCK2 UGT1A7 VCAM1 WNT9A XPC XPO1 XRCC1	10057 10232 10262 10317 10487 10552 1080 1111 11132 11309 11320 1233 1244 126 133 1586 177 1806 186 1869 1890 1950 1956 196 2042 207 213 2146 216 217 2189 22801 22938 23022 2323 240 2475 2668 27101 2778 28 301 3082 324 3315 335 3383 3458 348 3480 3552 3558 356 3562 3565 3566 3569 3586 3596 3598 3630 3676 3680 3791 3845 3897 3980 4060 4089 4233 4255 4288 4313 4318 4353 4507 4548 4582 4585 4586 4588 4684 472 4804 4843 4914 4968 51146 5156 5216 5265 545 54577 5467 5468 572 5727 5743 5965 5970 5979 6400 6416 6608 6623 6624 6647 6648 6696 672 675 701 7039 7040 7048 7057 7157 7371 7412 7483 7508 7514 7515 79728 83540 842 847 864 8714 8751 8754 886 887 90 9048 91 92 94025 9530 9531 976 9775 9956 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	PSAP	5660	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111542	familial expansile osteolysis Aliases: FEO McCabe disease hereditary expansile polyostotic osteolytic dysplasia	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:900	hepatopulmonary syndrome	CX3CL1 EDN1 EDNRB NOS3 TNF VEGFA	1906 1910 4846 6376 7124 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050840	cervical dystonia Aliases: spasmodic torticollis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:3507	dermatofibrosarcoma protuberans	COL1A1 PDGFB	1277 5155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081443	Stolerman neurodevelopmental syndrome	KDM6B	23135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110573	autosomal dominant nonsyndromic deafness 4A Aliases: DFNA4A autosomal dominant deafness 4A	CEACAM16 MYH14	388551 79784	Homo sapiens (human)	Alliance of Genome Resources

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