Human Phenotype Ontology 
..Starting node
..expand
Abnormal circulating gastrin concentration (HP:0500166)help
Term ID: 500166
Name: Abnormal circulating gastrin concentration
Synonym: Abnormal circulating gastrin level
Definition: An abnormal concentration of gastrin in the blood.
Comments:
Reference: HP:0500166
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0500166HP:0500166Abnormal circulating gastrin concentration0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0500166HP:0500166Abnormal circulating gastrin concentration0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0500166HP:0500166Abnormal circulating gastrin concentration0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0500166HP:0500166Abnormal circulating gastrin concentration0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0500166HP:0500166Abnormal circulating gastrin concentration0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0500166HP:0500166Abnormal circulating gastrin concentration0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0500166HP:0500167Hypergastrinemia1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0500166HP:0500167Hypergastrinemia1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0500166HP:0500167Hypergastrinemia1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0500166HP:0500167Hypergastrinemia1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0500166HP:0500167Hypergastrinemia1MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0500166HP:0500167Hypergastrinemia1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462


Genes (6) :CDKN1A CDKN1B CDKN2B CDKN2C MCOLN1 MEN1

Diseases (2) :ORPHA:652 OMIM:252650
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.