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monarch-initiative
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phenopacket-store
Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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POLR1A
#47
pnrobinson
closed
4 months ago
2
SRSF1
#46
pnrobinson
closed
4 months ago
1
INTS11
#45
pnrobinson
closed
4 months ago
1
KDM6B
#44
pnrobinson
closed
9 months ago
1
TRAF7
#43
pnrobinson
closed
9 months ago
1
SON
#42
pnrobinson
closed
10 months ago
0
A supplement table with potentially usable case reports
#41
ielis
closed
9 months ago
2
Annotation inconsistencies
#40
ielis
closed
10 months ago
1
Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease
#39
pnrobinson
closed
10 months ago
1
EZH1 update
#38
pnrobinson
closed
11 months ago
0
PPP2R1A
#37
pnrobinson
closed
11 months ago
0
KIF1A
#36
pnrobinson
closed
10 months ago
1
Improve LMNA phenotypes
#35
ielis
closed
11 months ago
0
Add notebook to summarize samples for C2S2 manuscript
#34
ielis
closed
11 months ago
0
Fix COL3A1
#33
ielis
closed
11 months ago
0
Smarcc2
#32
pnrobinson
closed
12 months ago
0
Fix P12
#31
ielis
closed
1 year ago
0
documentation
#30
pnrobinson
closed
1 year ago
0
Subjects with Geleophysic dysplasia 2 in *FBN1* cohort are exact phenotypic duplicates
#29
ielis
closed
10 months ago
1
Ezh1
#28
pnrobinson
closed
1 year ago
0
Eri1
#27
pnrobinson
closed
1 year ago
1
SMARCB1 -- Rhabdoid tumor predisposition syndrome 1 -- no variants
#26
pnrobinson
closed
9 months ago
2
WWOX notebooks
#25
pnrobinson
closed
9 months ago
7
OFD1 notebooks
#24
pnrobinson
closed
1 year ago
2
Gli3
#23
pnrobinson
closed
1 year ago
0
constant columns
#22
pnrobinson
closed
1 year ago
1
SCN2A, ZSWIM6, and STXBP1
#21
pnrobinson
closed
1 year ago
0
Setup notebook for manuscript summary
#20
ielis
closed
1 year ago
0
Fix phenopacket formatting issues
#19
ielis
closed
1 year ago
0
Add *SLC4A1* and *FLNA* cases and *SLC4A1* phenopackets
#18
ielis
closed
1 year ago
0
Fix annotation propagation issues in *LMNA* samples
#17
ielis
closed
1 year ago
0
WWOX
#16
ldingemans
closed
1 year ago
0
Fix LMNA cases
#15
ielis
closed
1 year ago
0
FBN1
#14
pnrobinson
closed
11 months ago
2
DO NOT MERGE YET FBN1
#13
pnrobinson
closed
1 year ago
0
Curate *LMNA* variants
#12
ielis
closed
1 year ago
1
OFD1
#11
ldingemans
closed
1 year ago
0
ARX
#10
pnrobinson
closed
1 year ago
1
SON
#9
ldingemans
closed
1 year ago
0
col3a1
#8
ldingemans
closed
1 year ago
0
WFS1
#7
ldingemans
closed
1 year ago
1
BMP2
#6
pnrobinson
closed
1 year ago
1
Data lex
#5
ldingemans
closed
1 year ago
0
Data lex
#4
ldingemans
closed
1 year ago
0
first paper for ``SMARCB1``
#3
ldingemans
closed
1 year ago
0
First data for ``SMARCB1``
#2
ldingemans
closed
1 year ago
0
ZSWIM6
#1
pnrobinson
closed
1 year ago
1
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