KDM6B

monarch-initiative · Nov 25, 2023 · c473516 · c473516
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diff --git a/docs/collections.md b/docs/collections.md
@@ -8,12 +8,14 @@ were mainly created using the Python library [pyphetools](https://github.com/mon
 | Cohort | Comments
 |:----------- |:-------------------- |
 | [ANKH](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/ANKH/ANKH_Summary.ipynb){:target="_blank"} | 7 Phenopackets; [Craniometaphyseal dysplasia](https://omim.org/entry/123000){:target="_blank"}; [Chondrocalcinosis 2](https://omim.org/entry/118600){:target="_blank"} |
+| ANKRD11 | 328 phenopackets; [KBG syndrome](https://omim.org/entry/ 148050){:target="_blank"} |
 | [COL3A1](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/COL3A1/COL3A1_Summary.ipynb){:target="_blank"} | 39 Phenopackets; [Polymicrogyria with or without vascular-type EDS](https://omim.org/entry/618343){:target="_blank"}; [Ehlers-Danlos syndrome, vascular type](https://omim.org/entry/130050){:target="_blank"} |
 | [ERI1](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/ERI1/ERI1_Guo_2013_PMID_37352860.ipynb){:target="_blank"} | 10 Phenopackets; [ERI1](https://omim.org/entry/608739){:target="_blank"} |
 | [EZH1](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb){:target="_blank"} | 19 Phenopackets; [EZH1](https://omim.org/entry/601674) |
-| [FBN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBN1){:target="_blank"} | 103 phenopackets ;[Ectopia lentis, familial](https://omim.org/entry/129600){:target="_blank"}, [Marfan lipodystrophy syndrome](https://omim.org/entry/616914){:target="_blank"}, [Marfan syndrome](https://omim.org/entry/154700){:target="_blank"},  [Geleophysic dysplasia 2](https://omim.org/entry/614185){:target="_blank"},[Acromicric dysplasia](https://omim.org/entry/102370){:target="_blank"}, |
-| [FLXB4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBXL4){:target="_blank"}| todo |
+| [FBN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBN1){:target="_blank"} | 103 phenopackets ;[Ectopia lentis, familial](https://omim.org/entry/129600){:target="_blank"}, [Marfan lipodystrophy syndrome](https://omim.org/entry/616914){:target="_blank"}, [Marfan syndrome](https://omim.org/entry/154700){:target="_blank"},  [Geleophysic dysplasia 2](https://omim.org/entry/614185){:target="_blank"},[Acromicric dysplasia](https://omim.org/entry/102370){:target="_blank"} |
+| [FLXB4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBXL4){:target="_blank"|todo |
 | [GLI3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GLI3){:target="_blank"} | 77 phenopackets; [Greig cephalopolysyndactyly syndrome](https://omim.org/entry/175700){:target="_blank"}, [Pallister-Hall syndrome](https://omim.org/entry/146510){:target="_blank"}, [Polydactyly, postaxial, types A1 and B](https://omim.org/entry/174200){:target="_blank"} |
+| [KDM6B](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/KDM6B/KDM6B_PMID_37196654.ipynb){:target="_blank"} |73 phenopackets; [Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities](https://omim.org/entry/ 618505){:target="_blank"} |
 
 
 

diff --git a/docs/developers.md b/docs/developers.md
@@ -15,5 +15,5 @@ other software, and then we present a notebook that summarizes the phenopackets.
 All phenopackets are stored in subfolders of the notebooks folder, which is organized according to cohort.
 
 phenopacket-store has a small python package that facilitates exporting all available phenopackets. See
-[](https://github.com/monarch-initiative/phenopacket-store/blob/main/GetPhenopackets.ipynb){:target="_blank"} for details.
+[GetPhenopackets](https://github.com/monarch-initiative/phenopacket-store/blob/main/GetPhenopackets.ipynb){:target="_blank"} for details.
 
diff --git a/notebooks/ANKRD11/Martinez-Cayuelas-KBG-2022.ipynb b/notebooks/ANKRD11/Martinez-Cayuelas-KBG-2022.ipynb
diff --git a/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb b/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb
@@ -20,7 +20,7 @@
      "name": "stdout",
      "output_type": "stream",
      "text": [
-      "pyphetools version 0.8.23\n"
+      "pyphetools version 0.8.25\n"
      ]
     }
    ],
@@ -1754,7 +1754,7 @@
   },
   {
    "cell_type": "code",
-   "execution_count": 53,
+   "execution_count": null,
    "id": "cb47bcdf",
    "metadata": {},
    "outputs": [],

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P1.json b/notebooks/EZH1/phenopackets/PMID_37433783_P1.json
@@ -198,7 +198,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_NEbMnBilEFCMojheDNlrMruYw",
+                "id": "var_prvDFILOPxkMRZLzsRJsNGqYu",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -233,7 +233,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.603188037Z",
+    "created": "2023-11-25T07:14:09.439437150Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P10.json b/notebooks/EZH1/phenopackets/PMID_37433783_P10.json
@@ -187,7 +187,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_ymDUYYHdgWFZDPfydNDYRNjkj",
+                "id": "var_vZnmVYitTIxtswOmndqBKqymO",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -222,7 +222,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.652964115Z",
+    "created": "2023-11-25T07:14:09.500533103Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P11.json b/notebooks/EZH1/phenopackets/PMID_37433783_P11.json
@@ -182,7 +182,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_ymDUYYHdgWFZDPfydNDYRNjkj",
+                "id": "var_vZnmVYitTIxtswOmndqBKqymO",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -217,7 +217,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.655633926Z",
+    "created": "2023-11-25T07:14:09.511334896Z",
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     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P12.json b/notebooks/EZH1/phenopackets/PMID_37433783_P12.json
@@ -168,7 +168,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_FfABaTfmVRhindhltqlfVdUAz",
+                "id": "var_FcKVcCTYYTKgTxbxTpQkelchP",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -203,7 +203,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_rQhmfKMAuhjgEnngJWSpedgel",
+                "id": "var_vVIUmLxzLKqXTEgdiRReSimlE",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -238,7 +238,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.658720016Z",
+    "created": "2023-11-25T07:14:09.516778945Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P13.json b/notebooks/EZH1/phenopackets/PMID_37433783_P13.json
@@ -127,7 +127,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_NfNmEmsihWFkJxtROwnchhVoR",
+                "id": "var_vsIMzDKCOoGzWolllJFVzbYTz",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -162,7 +162,7 @@
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   "metaData": {
-    "created": "2023-11-24T10:01:37.669409990Z",
+    "created": "2023-11-25T07:14:09.523674011Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P14.json b/notebooks/EZH1/phenopackets/PMID_37433783_P14.json
@@ -85,7 +85,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_NfNmEmsihWFkJxtROwnchhVoR",
+                "id": "var_vsIMzDKCOoGzWolllJFVzbYTz",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -120,7 +120,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.672555923Z",
+    "created": "2023-11-25T07:14:09.535418987Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P15.json b/notebooks/EZH1/phenopackets/PMID_37433783_P15.json
@@ -114,7 +114,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_NfNmEmsihWFkJxtROwnchhVoR",
+                "id": "var_vsIMzDKCOoGzWolllJFVzbYTz",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -149,7 +149,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.675185918Z",
+    "created": "2023-11-25T07:14:09.550678968Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P16.json b/notebooks/EZH1/phenopackets/PMID_37433783_P16.json
@@ -73,7 +73,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_NfNmEmsihWFkJxtROwnchhVoR",
+                "id": "var_vsIMzDKCOoGzWolllJFVzbYTz",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -108,7 +108,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.677797079Z",
+    "created": "2023-11-25T07:14:09.556304931Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P17newbranchofP13-14.json b/notebooks/EZH1/phenopackets/PMID_37433783_P17newbranchofP13-14.json
@@ -193,7 +193,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_NfNmEmsihWFkJxtROwnchhVoR",
+                "id": "var_vsIMzDKCOoGzWolllJFVzbYTz",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -228,7 +228,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.680325031Z",
+    "created": "2023-11-25T07:14:09.570159196Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P18.json b/notebooks/EZH1/phenopackets/PMID_37433783_P18.json
@@ -178,7 +178,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_NfNmEmsihWFkJxtROwnchhVoR",
+                "id": "var_vsIMzDKCOoGzWolllJFVzbYTz",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -213,7 +213,7 @@
     }
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   "metaData": {
-    "created": "2023-11-24T10:01:37.683145999Z",
+    "created": "2023-11-25T07:14:09.578144073Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
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diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P19Newpatient.json b/notebooks/EZH1/phenopackets/PMID_37433783_P19Newpatient.json
@@ -144,7 +144,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_YPDmLmHFlfkeWEudgGckcacns",
+                "id": "var_VWADFtgIMOamuqojvzVPHZdjg",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -179,7 +179,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.685951948Z",
+    "created": "2023-11-25T07:14:09.584033012Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P2.json b/notebooks/EZH1/phenopackets/PMID_37433783_P2.json
@@ -56,7 +56,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_jDNkOwyuWRszGGjLwuIFuvfkJ",
+                "id": "var_xLjrJhIjbpAztrfoOGJZNkOwk",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -91,7 +91,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.612631082Z",
+    "created": "2023-11-25T07:14:09.447468042Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P3.json b/notebooks/EZH1/phenopackets/PMID_37433783_P3.json
@@ -229,7 +229,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_wRuapXfUhbMbXCdyBONtXnkGu",
+                "id": "var_euZzpscQQFpVichIAQYLrFJcb",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -264,7 +264,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.625082015Z",
+    "created": "2023-11-25T07:14:09.452582836Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P4.json b/notebooks/EZH1/phenopackets/PMID_37433783_P4.json
@@ -221,7 +221,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_daYIlnIKDvtkjEdjkRFQJZCUB",
+                "id": "var_uqzXjbEECcGxCPHcoUQUhXPUs",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -256,7 +256,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.632848978Z",
+    "created": "2023-11-25T07:14:09.460997104Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P5.json b/notebooks/EZH1/phenopackets/PMID_37433783_P5.json
@@ -236,7 +236,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_nOxqLfvKPKIBbDBCeuFXHsRjK",
+                "id": "var_LNmiRngqDSyjrHwEyAGhnoNnC",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -271,7 +271,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.638660192Z",
+    "created": "2023-11-25T07:14:09.467932939Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
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diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P6.json b/notebooks/EZH1/phenopackets/PMID_37433783_P6.json
@@ -184,7 +184,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_nOxqLfvKPKIBbDBCeuFXHsRjK",
+                "id": "var_LNmiRngqDSyjrHwEyAGhnoNnC",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -219,7 +219,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.642032861Z",
+    "created": "2023-11-25T07:14:09.475063085Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P7.json b/notebooks/EZH1/phenopackets/PMID_37433783_P7.json
@@ -179,7 +179,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_DzwtwntgmSVvrXgJqFnGptdGG",
+                "id": "var_nZTKoTbQPBqooKLHpkwyOJBeO",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -214,7 +214,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.644890785Z",
+    "created": "2023-11-25T07:14:09.480892896Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P8.json b/notebooks/EZH1/phenopackets/PMID_37433783_P8.json
@@ -203,7 +203,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_oUuiOGkxsjzJOVKqAczvXSaJf",
+                "id": "var_JgioiTzaCZUBTQHDteGcprXUF",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -238,7 +238,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.647516965Z",
+    "created": "2023-11-25T07:14:09.486885070Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {

diff --git a/notebooks/EZH1/phenopackets/PMID_37433783_P9.json b/notebooks/EZH1/phenopackets/PMID_37433783_P9.json
@@ -232,7 +232,7 @@
             "interpretationStatus": "CAUSATIVE",
             "variantInterpretation": {
               "variationDescriptor": {
-                "id": "var_oUuiOGkxsjzJOVKqAczvXSaJf",
+                "id": "var_JgioiTzaCZUBTQHDteGcprXUF",
                 "geneContext": {
                   "valueId": "HGNC:3526",
                   "symbol": "EZH1"
@@ -267,7 +267,7 @@
     }
   ],
   "metaData": {
-    "created": "2023-11-24T10:01:37.650235891Z",
+    "created": "2023-11-25T07:14:09.493402957Z",
     "createdBy": "ORCID:0000-0002-0736-9199",
     "resources": [
       {