|
DOID:0060807
|
syndromic X-linked intellectual disability Najm type
|
SGD:S000006125
|
Saccharomyces cerevisiae S288C
|
855897
|
HRR25
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0111223
|
centronuclear myopathy 1
|
SGD:S000001709
|
Saccharomyces cerevisiae S288C
|
853870
|
VPS1
|
|
mutant phenotype evidence used in manual assertion
|
- PMID:28357347
- PMID:37060997
|
|
DOID:0070214
|
familial hyperinsulinemic hypoglycemia 7
|
SGD:S000000671
|
Saccharomyces cerevisiae S288C
|
850438
|
ERS1
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:9169
|
Wiskott-Aldrich syndrome
|
SGD:S000005707
|
Saccharomyces cerevisiae S288C
|
854353
|
LAS17
|
|
sequence similarity evidence used in manual assertion
|
- PMID:16488394
- PMID:19817875
- PMID:35768435
|
|
DOID:0060041
|
autism spectrum disorder
|
SGD:S000005309
|
Saccharomyces cerevisiae S288C
|
855760
|
SEC12
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:1059
|
intellectual disability
|
SGD:S000005309
|
Saccharomyces cerevisiae S288C
|
855760
|
SEC12
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0050577
|
cranioectodermal dysplasia
|
SGD:S000005309
|
Saccharomyces cerevisiae S288C
|
855760
|
SEC12
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0050477
|
Liddle syndrome
|
SGD:S000000927
|
Saccharomyces cerevisiae S288C
|
856862
|
RSP5
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:162
|
cancer
|
SGD:S000000233
|
Saccharomyces cerevisiae S288C
|
852317
|
CDS1
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:1485
|
cystic fibrosis
|
SGD:S000001692
|
Saccharomyces cerevisiae S288C
|
853671
|
STE6
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:14504
|
Niemann-Pick disease
|
SGD:S000005927
|
Saccharomyces cerevisiae S288C
|
856101
|
NCR1
|
|
mutant phenotype evidence used in manual assertion
|
- PMID:31543266
- PMID:37908116
|
|
DOID:1485
|
cystic fibrosis
|
SGD:S000001247
|
Saccharomyces cerevisiae S288C
|
856611
|
MNL1
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:162
|
cancer
|
SGD:S000000233
|
Saccharomyces cerevisiae S288C
|
852317
|
CDS1
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0050560
|
Walker-Warburg syndrome
|
SGD:S000003904
|
Saccharomyces cerevisiae S288C
|
853608
|
PMT4
|
|
mutant phenotype evidence used in manual assertion
|
|
|
DOID:5212
|
congenital disorder of glycosylation
|
SGD:S000000178
|
Saccharomyces cerevisiae S288C
|
852196
|
ALG3
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:0080570
|
congenital disorder of glycosylation It
|
SGD:S000004711
|
Saccharomyces cerevisiae S288C
|
855131
|
PGM2
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:0080572
|
congenital disorder of glycosylation Iw
|
SGD:S000002990
|
Saccharomyces cerevisiae S288C
|
852862
|
STT3
|
|
mutant phenotype evidence used in manual assertion
|
|
|
DOID:9455
|
lipid storage disease
|
SGD:S000004232
|
Saccharomyces cerevisiae S288C
|
850943
|
ARV1
|
|
sequence similarity evidence used in manual assertion
|
|
|
DOID:162
|
cancer
|
SGD:S000000116
|
Saccharomyces cerevisiae S288C
|
852261
|
RFT1
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:9870
|
galactosemia
|
SGD:S000000222
|
Saccharomyces cerevisiae S288C
|
852306
|
GAL7
|
|
mutant phenotype evidence used in manual assertion
|
- PMID:24077966
- PMID:28213126
- PMID:38986816
|
|
DOID:0080552
|
congenital disorder of glycosylation Ia
|
SGD:S000001849
|
Saccharomyces cerevisiae S288C
|
850499
|
SEC53
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:5212
|
congenital disorder of glycosylation
|
SGD:S000000178
|
Saccharomyces cerevisiae S288C
|
852196
|
ALG3
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:1324
|
lung cancer
|
SGD:S000001411
|
Saccharomyces cerevisiae S288C
|
854657
|
MLP2
|
|
mutant phenotype evidence used in manual assertion
|
|
|
DOID:331
|
central nervous system disease
|
SGD:S000004295
|
Saccharomyces cerevisiae S288C
|
851013
|
ACO1
|
|
genetic interaction evidence used in manual assertion
|
|
|
DOID:3304
|
germinoma
|
SGD:S000002889
|
Saccharomyces cerevisiae S288C
|
852092
|
PHO8
|
|
sequence similarity evidence used in manual assertion
|
|