Signs & symptoms: what the collected sources say

_Auto-generated summary of 62 insights in the “Signs & symptoms” cluster. Rebuilt on every analysis run; every claim links back to its source._

• New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del… - A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
• New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique… - A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.”
• New observation reported: We reported for the first time three patients with cardiac and great artery malformations… - A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
• New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously … - A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
• New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination… - A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
• New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 … - A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”
• New observation reported: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys… - A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
• New observation reported: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses… - A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
• New observation reported: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal… - A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
• New observation reported: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge… - A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
• New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se… - A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
• New observation reported: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a… - A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
• New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1… - A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
• New observation reported: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri… - A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and rs11658063 on 17q12).”

Insight mix

• Phenotype expansion: 50
• Gene–trait link: 7
• Frequency / statistic: 5

Latest evidence in the collected corpus

New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”

“In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.”

“Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric…”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”

“We reported for the first time three patients with cardiac and great artery malformations.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”

“However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”

“For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

New observation reported: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”

“(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”

_{corroboration 1 · confidence 97% · updated 2026-11-14 · source}

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This entry is version 16. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 97% · last updated 2026-11-14 16:44