GlyCosmos Portal

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

Displaying entries **8426 - 8450** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	23556	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	EPHB4 LGMN	2050 5641	Homo sapiens (human)	Alliance of Genome Resources
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	CACNA1A CACNA1B CACNA1E CALCA CD40LG EDNRA ESR1 FOS HTR7 KCNK18 MAOA NOS3 NPPB TNF TRPV1	1909 2099 2353 3363 338567 4128 4846 4879 7124 7442 773 774 777 796 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	APOC3 APOE	345 348	Homo sapiens (human)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	AKT1 ATM AZGP1 BMI1 BMP6 BRCA1 BRCA2 BST2 CA12 CALR CBX8 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COL14A1 CXCR4 CYP1A1 CYP1B1 CYP24A1 DCC DPP4 EFNB2 EGFR EHMT1 EHMT2 EPB41L3 EPHB4 ERBB4 EZH2 FAP FAT1 FGFR4 FOXA1 FUBP1 GPX3 GRB7 IDH2 JUNB KAT2B KDM4C KDM5B KDM6A KMT2C KMT2D KRT7 LZTS1 MAP3K1 MBD4 MGMT MLH1 MMP14 MMP2 MMP9 MSH2 PAGR1 PTCH1 PTPRT RICTOR RUNX1 RUNX2 RUNX3 SETD5 SLC1A5 SLC7A5 SPEN TAP1 TERT TET2 TET3 TGFBR2 TNFAIP3 TP53 XPO1 XRCC1	10765 10919 11122 11178 1138 1139 1143 1543 1545 1591 1630 1803 1948 1956 200424 2050 2066 207 2146 2191 2195 2264 23013 23081 23136 253260 2878 2886 3169 3418 3726 3855 4214 4255 4292 4313 4318 4323 4436 472 54790 55209 563 5727 57332 58508 648 6510 654 672 675 684 6890 7015 7048 7128 7157 7373 7403 7514 7515 771 7852 79447 79813 8085 81037 811 8140 860 861 864 8850 8880 8930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	MUSK	4593	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081231	autosomal recessive intellectual developmental disorder 70	RSRC1	51319	Homo sapiens (human)	Alliance of Genome Resources
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	CD163 CD68	9332 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:3611	acute retinal necrosis syndrome Aliases: acute retinal necrosis	HLA-B IFNG	3106 3458	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080745	polymyositis	CCR2 CX3CL1 ELN HGF IFNG IL4 MMP9 PMS1 ROBO1 SLIT2 STAT4 TNFRSF1A TNFRSF1B	2006 3082 3458 3565 4318 5378 6091 6376 6775 7132 7133 729230 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081365	Paget's disease of bone 2 Aliases: Paget disease of bone-2	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070036	autosomal dominant intellectual developmental disorder 6 Aliases: MRD6 autosomal dominant mental retardation 6 autosomal dominant non-syndromic intellectual disability 6	GRIN2B	2904	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	BMP1	649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080943	46,XX sex reversal 5	NR2F2	7026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	COL11A1 EPHA10 GREB1L GRHL2 MAP1B PI4KB THOC1 TRRAP USP48	1301 284656 4131 5298 79977 80000 8295 84196 9984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110321	hypertrophic cardiomyopathy 15 Aliases: CMH15 cardiomyopathy familial hypertrophic 15	VCL	7414	Homo sapiens (human)	Alliance of Genome Resources
DOID:3153	lipomatosis Aliases: multiple lipomatosis	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:4606	bile duct cancer Aliases: Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct	APOB APOE TJP1	338 348 7082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110828	Usher syndrome type 3 Aliases: USH3	CLRN1	7401	Homo sapiens (human)	Alliance of Genome Resources
DOID:987	alopecia	BDNF CDSN DSG4 FAR2 HLA-B KRT71 PRSS8	1041 112802 147409 3106 55711 5652 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110377	retinitis pigmentosa 49 Aliases: RP49	CNGA1	1259	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112175	spermatogenic failure 47 Aliases: SPGF47	DZIP1	22873	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome Aliases: Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13	MECP2	4204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	CYP2U1	113612	Homo sapiens (human)	Alliance of Genome Resources

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