GlyCosmos Portal

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

Displaying entries **3276 - 3300** of **4649** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	HCFC1	3054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect Aliases: methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect	CD320	51293	Homo sapiens (human)	Alliance of Genome Resources
DOID:14749	methylmalonic acidemia Aliases: methylmalonic aciduria	MCEE MMAB MMUT	326625 4594 84693	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC Aliases: Cobalamin C deficiency MAHCC	PRDX1 THAP11	5052 57215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF Aliases: Cobalamin F deficiency MAHCF	LMBRD1	55788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	MTR	4548	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MMUT	4594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050452	mevalonic aciduria Aliases: Mevalonate Kinase Deficiency	MVK TNF	4598 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080105	microcephaly and chorioretinopathy 1	TUBGCP6	85378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080107	microcephaly and chorioretinopathy 3	TUBGCP4	27229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	AARS1 AARS2 ASPM AUTS2 CARS1 CDK5RAP2 CHKA CHKB CIT COPB2 DHX37 EFTUD2 ETNK1 ETNK2 EXOC7 KATNB1 KIF20B MAPKBP1 MFSD2A NSD1 ODF2 PSMB1 PUS7 SLC25A19 TUBA1A TUBB WDR62	10300 11113 1119 1120 16 203068 23005 23265 259266 26053 284403 4957 54517 55224 55500 55755 5689 57505 57647 60386 64324 7846 833 84879 9276 9343 9585	Homo sapiens (human)	Alliance of Genome Resources
DOID:11252	microcytic anemia	DNM1 DNM2 TMPRSS6	164656 1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112234	microlissencephaly	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060861	microphthalmia with limb anomalies Aliases: MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome	SMOC1	64093	Homo sapiens (human)	Alliance of Genome Resources
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	CRIM1 GDF6 HCCS LRP5 MAB21L1 MFRP MID1 RBM24 STAU2 TRPM3	221662 27067 3052 392255 4041 4081 4281 51232 80036 83552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060775	microvillus inclusion disease Aliases: Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy	CDC42	998	Homo sapiens (human)	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	ABCC8 ACE2 ACE AGER AGT AIFM1 ALB AP2B1 APOE APP AQP4 BAD BAX BCAN BDNF C1QTNF6 C3 CALCA CAMK2A CASP6 CASP9 CD86 CREB1 CRTC1 CSF3 CXCR3 CYP2E1 DICER1 EGR1 EGR2 EIF2S1 ELANE EPCAM EPHB2 EPN1 EPO ERCC6 F12 FADD GAP43 GAPDH GDNF GHRL GHSR GLUL GRIN1 GSK3B HAS2 HDAC4 HDAC9 HIF1A HMGB1 HP HPR HSPA4 IL13 IL1RN IL4 IL5 IL6 IL7R IRF4 KCNN4 MAG MAPT MMP9 MTOR NAMPT NCAM1 NFE2L2 NGF NGFR NOD2 NOS2 NOX1 NRG1 OGG1 PARK7 PARP1 PAWR PDGFRA PDGFRB PLAT PTPRZ1 RGMA RPL28 RUNX1 SERPINE1 SERPINF1 SHH SIRT1 SLC12A2 SLC1A2 SLC2A1 SLC9A1 SMO SNAP91 SOD1 TGFB1 TNF TNFRSF1A TREM1 UPP1 VEGFA	10135 11315 114904 1385 142 1440 1571 163 1636 177 183 1958 1959 1965 1991 2048 2056 2074 213 2161 23373 23405 23411 2475 2596 2597 2668 2693 27035 2752 2833 2902 2932 29924 3037 3084 3091 3146 3240 3250 3308 348 351 3557 3565 3567 3569 3575 3596 361 3662 3783 4072 4099 4137 4318 4684 4780 4803 4804 4843 4968 5054 5074 5156 5159 51738 5176 5327 54210 56963 572 5803 581 59272 6158 627 63827 64127 6469 6506 6513 6548 6558 6608 6647 6833 7040 7124 7132 718 7378 7422 796 815 839 842 861 8772 9131 942 9734 9759 9892	Homo sapiens (human)	Alliance of Genome Resources
DOID:2810	middle lobe syndrome	SALL1	6299	Homo sapiens (human)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	ATP1A2 CACNA1A DBH DRD2	1621 1813 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:12783	migraine without aura Aliases: common migraine	ENO2 LDLR TNF	2026 3949 7124	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:0080832	mild cognitive impairment	AGER NEFL SLC6A3	177 4747 6531	Homo sapiens (human)	Alliance of Genome Resources

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