|
DOID:0050567
|
orofacial cleft
|
HGNC:7579
|
Homo sapiens (human)
|
4627
|
MYH9
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:17337617
- PMID:18716610
- PMID:19320731
- PMID:19891592
|
|
DOID:0050569
|
Seckel syndrome
|
HGNC:18672
|
Homo sapiens (human)
|
55755
|
CDK5RAP2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005163
|
Saccharomyces cerevisiae S288C
|
855502
|
ALG9
|
|
sequence similarity evidence used in manual assertion
|
- PMID:15148656
- PMID:15945070
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
ZFIN:ZDB-GENE-040801-115
|
Danio rerio (zebrafish)
|
445202
|
dpm1
|
|
curator inference used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005528
|
Saccharomyces cerevisiae S288C
|
854163
|
ALG6
|
|
genetic interaction evidence used in manual assertion
|
- PMID:10359825
- PMID:10914684
- PMID:10924277
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005593
|
Saccharomyces cerevisiae S288C
|
854233
|
ALG8
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005593
|
Saccharomyces cerevisiae S288C
|
854233
|
ALG8
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000006148
|
Saccharomyces cerevisiae S288C
|
855874
|
ALG5
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005163
|
Saccharomyces cerevisiae S288C
|
855502
|
ALG9
|
|
genetic interaction evidence used in manual assertion
|
- PMID:15148656
- PMID:15945070
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000000314
|
Saccharomyces cerevisiae S288C
|
852407
|
ALG1
|
|
genetic interaction evidence used in manual assertion
|
- PMID:14709599
- PMID:14973778
- PMID:22966035
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000000116
|
Saccharomyces cerevisiae S288C
|
852261
|
RFT1
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005313
|
Saccharomyces cerevisiae S288C
|
855764
|
ALG12
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000006148
|
Saccharomyces cerevisiae S288C
|
855874
|
ALG5
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
HGNC:3007
|
Homo sapiens (human)
|
54344
|
DPM3
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
FB:FBgn0036300
|
Drosophila melanogaster (fruit fly)
|
39436
|
Pmm2
|
|
combinatorial experimental and author inference evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005313
|
Saccharomyces cerevisiae S288C
|
855764
|
ALG12
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000000314
|
Saccharomyces cerevisiae S288C
|
852407
|
ALG1
|
|
sequence similarity evidence used in manual assertion
|
- PMID:14709599
- PMID:14973778
- PMID:22966035
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
MGI:1859214
|
Mus musculus (house mouse)
|
54128
|
Pmm2
|
|
author statement supported by traceable reference
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000000116
|
Saccharomyces cerevisiae S288C
|
852261
|
RFT1
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:0050570
|
congenital disorder of glycosylation type I
|
SGD:S000005528
|
Saccharomyces cerevisiae S288C
|
854163
|
ALG6
|
|
sequence similarity evidence used in manual assertion
|
- PMID:10359825
- PMID:10914684
- PMID:10924277
|
|
DOID:0050571
|
congenital disorder of glycosylation type II
|
HGNC:16787
|
Homo sapiens (human)
|
80267
|
EDEM3
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050571
|
congenital disorder of glycosylation type II
|
HGNC:18619
|
Homo sapiens (human)
|
83548
|
COG3
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
|
DOID:0050571
|
congenital disorder of glycosylation type II
|
FB:FBgn0265351
|
Drosophila melanogaster (fruit fly)
|
40981
|
Gfr
|
CG9620
|
combinatorial experimental and author inference evidence used in manual assertion
|
|
|
DOID:0050571
|
congenital disorder of glycosylation type II
|
FB:FBgn0265351
|
Drosophila melanogaster (fruit fly)
|
40981
|
nac
|
CG9620
|
combinatorial experimental and author inference evidence used in manual assertion
|
|
|
DOID:0050571
|
congenital disorder of glycosylation type II
|
HGNC:18305
|
Homo sapiens (human)
|
10159
|
ATP6AP2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|