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monarch-initiative
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phenopacket-store
Collection of phenopackets
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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PTPN11 LEOPARD
#69
pnrobinson
closed
5 months ago
1
KIA00753
#68
pnrobinson
closed
3 months ago
0
SPTAN1 3 individuals
#67
pnrobinson
opened
5 months ago
0
DOCK8
#66
pnrobinson
opened
6 months ago
2
Fingertip Tufting
#65
pnrobinson
closed
3 months ago
1
SLC4A1
#64
pnrobinson
closed
5 months ago
1
LMNA
#63
pnrobinson
closed
6 months ago
10
ANK2
#62
pnrobinson
opened
7 months ago
1
small file output buggy
#61
pnrobinson
closed
3 months ago
1
Revise the notebooks in ZSWIM6
#60
pnrobinson
closed
7 months ago
1
SLC2A1 - potential candidate gene for genotype phenotype correlation
#59
ielis
closed
3 months ago
1
Refactor CaseEncoder code to use fenominal-gui
#58
pnrobinson
closed
3 months ago
1
Typos in age dictionary will lead to "not provided"
#57
julesjacobsen
closed
7 months ago
2
Srf1
#56
LCCarmody
closed
6 months ago
0
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
#55
pnrobinson
opened
7 months ago
1
export all phenopackets
#54
pnrobinson
closed
7 months ago
0
Make a small Python package that extracts all phenopackets and places them into a gzip package.
#53
pnrobinson
closed
7 months ago
1
ACBD6
#52
pnrobinson
closed
5 days ago
2
NAE1
#51
pnrobinson
closed
3 months ago
1
TTI1
#50
pnrobinson
closed
3 months ago
1
ESAM
#49
pnrobinson
closed
5 months ago
1
SNAPC4
#48
pnrobinson
closed
3 months ago
1
POLR1A
#47
pnrobinson
closed
3 months ago
2
SRSF1
#46
pnrobinson
closed
3 months ago
1
INTS11
#45
pnrobinson
closed
3 months ago
1
KDM6B
#44
pnrobinson
closed
7 months ago
1
TRAF7
#43
pnrobinson
closed
7 months ago
1
SON
#42
pnrobinson
closed
8 months ago
0
A supplement table with potentially usable case reports
#41
ielis
closed
7 months ago
2
Annotation inconsistencies
#40
ielis
closed
9 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
9 months ago
1
EZH1 update
#38
pnrobinson
closed
9 months ago
0
PPP2R1A
#37
pnrobinson
closed
10 months ago
0
KIF1A
#36
pnrobinson
closed
9 months ago
1
Improve LMNA phenotypes
#35
ielis
closed
10 months ago
0
Add notebook to summarize samples for C2S2 manuscript
#34
ielis
closed
10 months ago
0
Fix COL3A1
#33
ielis
closed
10 months ago
0
Smarcc2
#32
pnrobinson
closed
10 months ago
0
Fix P12
#31
ielis
closed
10 months ago
0
documentation
#30
pnrobinson
closed
11 months ago
0
Subjects with Geleophysic dysplasia 2 in *FBN1* cohort are exact phenotypic duplicates
#29
ielis
closed
9 months ago
1
Ezh1
#28
pnrobinson
closed
11 months ago
0
Eri1
#27
pnrobinson
closed
1 year ago
1
SMARCB1 -- Rhabdoid tumor predisposition syndrome 1 -- no variants
#26
pnrobinson
closed
7 months ago
2
WWOX notebooks
#25
pnrobinson
closed
7 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
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