Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13830714 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:24893065 PMID:25741868 PMID:28492532


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13828340 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:21954287


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10403678 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8562548 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:19377476 PMID:23871722 PMID:24505460 PMID:28492532 PMID:28944139


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8641294 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:18414213 PMID:28492532


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:9684480 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:18414213 PMID:19165920 PMID:20029458 PMID:21954287 PMID:22452838 PMID:22709267 PMID:24781210 PMID:25741868 PMID:28492532


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens) & RGD:10047777|RGD:10403449|RGD:11060096|RGD:11642048|RGD:12849178|RGD:13466916|RGD:13830635|RGD:155738860|RGD:8641291|RGD:9681996|RGD:9692748 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens) & RGD:11642131|RGD:126733111|RGD:127302837|RGD:13466521|RGD:13830114|RGD:13830269|RGD:13830426|RGD:13830755|RGD:13836643|RGD:151781429|RGD:15186316|RGD:15197380|RGD:152150418|RGD:155683572|RGD:155683607|RGD:155705827|RGD:155710869|RGD:28910572|RGD:38492808|RGD:9692747 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:28492532


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:155747724 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:22709267 PMID:25886057


  • An association has been curated linking CASK and genetic disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens) & RGD:10401504|RGD:13530620|RGD:13530986|RGD:13532321|RGD:13532567|RGD:13829182|RGD:13830627|RGD:155679847|RGD:155723380|RGD:155727636|RGD:155731195|RGD:155950256|RGD:156211095|RGD:156228268|RGD:156297538|RGD:156339320|RGD:329399956|RGD:401736070|RGD:401864051|RGD:40887605 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 10 papers in RGD have been used to annotate CASK
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases


  • Go Back to source page   Continue to Ontology report