GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **11201 - 11225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110544	autosomal dominant nonsyndromic deafness 12 Aliases: DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8	TECTA	7007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080454	developmental and epileptic encephalopathy 42 Aliases: DEE42 early infantile epileptic encephalopathy 42	CACNA1A	773	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:0111150	autosomal dominant isolated ectopia lentis 1 Aliases: ECTOL1	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111768	X-linked properdin deficiency Aliases: CFPD complement factor properdin deficiency	CFP	5199	Homo sapiens (human)	Alliance of Genome Resources
DOID:114	heart disease	A2M ALB ALDH2 ATP2A3 BAX CASP9 CNOT1 CNOT4 CNOT6L CP CYP11B1 CYP1A1 EDN1 EP300 FBN1 GLUL GPI GSK3B HRAS KAT2A KAT2B KCNK17 KCNK18 KRAS MEIS1 MTR MUC1 MYH7 NPPA NPPB NPPC NRAS PIK3CB PIK3CD PPARGC1A RYR2 SLC6A4 SOD3 SOX13 SOX5 SOX6 STAT3 TGFB1 THBS1 TIMP1 TNNI3 YAP1	10413 10891 1356 1543 1584 1906 2 2033 213 217 2200 23019 246175 2648 2752 2821 2932 3265 338567 3845 4211 4548 4582 4625 4850 4878 4879 4880 489 4893 5291 5293 55553 581 6262 6532 6649 6660 6774 7040 7057 7076 7137 842 8850 89822 9580	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112274	X-linked spermatogenic failure 3 Aliases: SPGFX3	CFAP47	286464	Homo sapiens (human)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ADAMTS13 ELANE F13A1 F2 F3 FGA GP6 IL10 IL6 PLAT PROC SERPINC1 SERPINE1 TFPI THBD TNF	11093 1991 2147 2152 2162 2243 3569 3586 462 5054 51206 5327 5624 7035 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13514	venous tributary occlusion of retina Aliases: Venous tributary (branch) occlusion of retina Venous tributary branch occlusion of retina	ITGA2 SERPINF1	3673 5176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	ADGRG2	10149	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050656	pseudo-TORCH syndrome 1 Aliases: BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome	OCLN	100506658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	WDR45	11152	Homo sapiens (human)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 MYH11 PTGIS TFAP2B	345651 4629 5740 58 59 60 70 7021 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112072	nuclear type mitochondrial complex I deficiency 20 Aliases: ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency	ACAD9 ACADL	28976 33	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:0001816	angiosarcoma Aliases: hemangiosarcoma	KCNN4 MYC PTPRB STAT3 TP53	3783 4609 5787 6774 7157	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:0060108	brain glioma Aliases: lower grade glioma	BAX FADD FAS FASLG FOXA1 GAPDH KDR PTPRB VEGFA XRCC1	2597 3169 355 356 3791 5787 581 7422 7515 8772	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1	22856	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	CAST IL10 MPO NOS3 SERPINA3	12 3586 4353 4846 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050994	episodic ataxia type 6	SLC1A1 SLC1A3 SLC1A4 SLC1A5 SLC1A6 SLC1A7	6505 6507 6509 6510 6511 6512	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112337	spermatogenic failure 55 Aliases: SPGF55	SPAG17	200162	Homo sapiens (human)	Alliance of Genome Resources

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