Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the digestive system (HP:0025031)help
Parent Node:
expandAbnormality of digestive system physiology (HP:0025032)help
Parent Node:
expandAbnormality of the gastrointestinal tract (HP:0011024)help
..Starting node
..expandFunctional abnormality of the gastrointestinal tract (HP:0012719)help
Term ID: 12719
Name: Functional abnormality of the gastrointestinal tract
Synonym: Functional abnormality of the GI tract; GI dysfunction
Definition: Abnormal functionality of the gastrointestinal tract.
Comments:
Reference: HP:0012719
Genes and Diseases:
 
       Child Nodes:
........expandGastrointestinal hemorrhage (HP:0002239) help
................... HP:0002248 Hematemesis
................... HP:0002249 Melena
................... HP:0002573 Hematochezia
................... HP:0002584 Intestinal bleeding
........expandGastrointestinal inflammation (HP:0004386) help
................... HP:0002037 Inflammation of the large intestine
................... HP:0100280 Crohn's disease
................... HP:0100633 Esophagitis
........expandPeptic ulcer (HP:0004398) help
................... HP:0002592 Gastric ulcer
........expandGastrointestinal obstruction (HP:0004796) help
................... HP:0005214 Intestinal obstruction
................... HP:0005240 Esophageal obstruction
................... HP:0005249 Functional intestinal obstruction
........expandRecurrent infection of the gastrointestinal tract (HP:0004798) help
................... HP:0005202 Helicobacter pylori infection
................... HP:0005215 Frequent Giardia lamblia infestation
................... HP:0031123 Recurrent gastroenteritis
........expandGastrointestinal infarctions (HP:0005244) help
........expandAbnormality of esophagus physiology (HP:0025270) help
................... HP:0002015 Dysphagia
................... HP:0002020 Gastroesophageal reflux
................... HP:0025271 Esophageal spasms
........expandAbnormal gastrointestinal motility (HP:0030895) help
................... HP:0002579 Gastrointestinal dysmotility
................... HP:0030896 Abnormal gastrointestinal transit time

 Sister Nodes: 
..expandMorphological abnormality of the gastrointestinal tract (HP:0012718) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012719HP:0012719Functional abnormality of the gastrointestinal tract0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0012719Functional abnormality of the gastrointestinal tract0CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0012719Functional abnormality of the gastrointestinal tract0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0012719Functional abnormality of the gastrointestinal tract0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0012719Functional abnormality of the gastrointestinal tract0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0012719Functional abnormality of the gastrointestinal tract0TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0012719Functional abnormality of the gastrointestinal tract0TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0032166Unusual gastrointestinal infection1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005244Gastrointestinal infarctions1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0004796Gastrointestinal obstruction1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0004798Recurrent infection of the gastrointestinal tract1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0030895Abnormal gastrointestinal motility1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0032448Achlorhydria1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002239Gastrointestinal hemorrhage1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0004398Peptic ulcer1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0025270Abnormal esophagus physiology1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0032043Odynophagia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0004386Gastrointestinal inflammation1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0025270Abnormal esophagus physiology1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0032166Unusual gastrointestinal infection1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004386Gastrointestinal inflammation1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004798Recurrent infection of the gastrointestinal tract1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0005244Gastrointestinal infarctions1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004398Peptic ulcer1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004796Gastrointestinal obstruction1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0030895Abnormal gastrointestinal motility1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0032448Achlorhydria1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0032043Odynophagia1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002239Gastrointestinal hemorrhage1CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0032448Achlorhydria1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002239Gastrointestinal hemorrhage1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0004398Peptic ulcer1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0030895Abnormal gastrointestinal motility1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0025270Abnormal esophagus physiology1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0032043Odynophagia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0004386Gastrointestinal inflammation1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005244Gastrointestinal infarctions1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0004796Gastrointestinal obstruction1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0004798Recurrent infection of the gastrointestinal tract1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0032166Unusual gastrointestinal infection1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0032043Odynophagia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0025270Abnormal esophagus physiology1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004386Gastrointestinal inflammation1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004796Gastrointestinal obstruction1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004798Recurrent infection of the gastrointestinal tract1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0032166Unusual gastrointestinal infection1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0005244Gastrointestinal infarctions1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002239Gastrointestinal hemorrhage1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004398Peptic ulcer1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0030895Abnormal gastrointestinal motility1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0032448Achlorhydria1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004386Gastrointestinal inflammation1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0004798Recurrent infection of the gastrointestinal tract1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032166Unusual gastrointestinal infection1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005244Gastrointestinal infarctions1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0004796Gastrointestinal obstruction1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0004398Peptic ulcer1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0030895Abnormal gastrointestinal motility1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032448Achlorhydria1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002239Gastrointestinal hemorrhage1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0025270Abnormal esophagus physiology1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032043Odynophagia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032166Unusual gastrointestinal infection1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005244Gastrointestinal infarctions1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0004796Gastrointestinal obstruction1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0004798Recurrent infection of the gastrointestinal tract1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0032448Achlorhydria1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002239Gastrointestinal hemorrhage1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0004398Peptic ulcer1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0030895Abnormal gastrointestinal motility1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0025270Abnormal esophagus physiology1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0032043Odynophagia1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0004386Gastrointestinal inflammation1TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0032448Achlorhydria1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002239Gastrointestinal hemorrhage1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0004398Peptic ulcer1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0030895Abnormal gastrointestinal motility1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0032043Odynophagia1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0025270Abnormal esophagus physiology1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0004386Gastrointestinal inflammation1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005244Gastrointestinal infarctions1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0004796Gastrointestinal obstruction1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0004798Recurrent infection of the gastrointestinal tract1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0032166Unusual gastrointestinal infection1TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0030896Abnormal gastrointestinal transit time2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0032144Coffee ground vomitus2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100633Esophagitis2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0031123Recurrent gastroenteritis2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002579Gastrointestinal dysmotility2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002015Dysphagia2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:4000055Intestinal inflammation2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0031857Ineffective esophageal peristalsis2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002584Intestinal bleeding2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005240Esophageal obstruction2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005202Helicobacter pylori infection2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002037Inflammation of the large intestine2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0032167Clostridium difficile enteritis2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100280Crohn's disease2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002020Gastroesophageal reflux2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002573Hematochezia2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002249Melena2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005215Frequent Giardia lamblia infestation2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0032168Clostridium difficile colitis2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002592Gastric ulcer2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0025271Esophageal spasms2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002248Hematemesis2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005249Functional intestinal obstruction2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005214Intestinal obstruction2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005215Frequent Giardia lamblia infestation2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002020Gastroesophageal reflux2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002573Hematochezia2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0032168Clostridium difficile colitis2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0005240Esophageal obstruction2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002037Inflammation of the large intestine2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0100280Crohn's disease2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002248Hematemesis2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0005249Functional intestinal obstruction2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0005214Intestinal obstruction2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002249Melena2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002592Gastric ulcer2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0025271Esophageal spasms2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0031123Recurrent gastroenteritis2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0030896Abnormal gastrointestinal transit time2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0032144Coffee ground vomitus2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0005202Helicobacter pylori infection2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0031857Ineffective esophageal peristalsis2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002584Intestinal bleeding2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0032167Clostridium difficile enteritis2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0100633Esophagitis2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002579Gastrointestinal dysmotility2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002015Dysphagia2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:4000055Intestinal inflammation2CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002015Dysphagia2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:4000055Intestinal inflammation2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0031857Ineffective esophageal peristalsis2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002584Intestinal bleeding2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100633Esophagitis2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0031123Recurrent gastroenteritis2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002579Gastrointestinal dysmotility2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100280Crohn's disease2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002020Gastroesophageal reflux2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002573Hematochezia2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005240Esophageal obstruction2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005202Helicobacter pylori infection2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002037Inflammation of the large intestine2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0032167Clostridium difficile enteritis2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002592Gastric ulcer2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0025271Esophageal spasms2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002248Hematemesis2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005249Functional intestinal obstruction2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005214Intestinal obstruction2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002249Melena2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005215Frequent Giardia lamblia infestation2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0032168Clostridium difficile colitis2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0032144Coffee ground vomitus2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0030896Abnormal gastrointestinal transit time2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100280Crohn's disease2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002020Gastroesophageal reflux2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002573Hematochezia2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0005240Esophageal obstruction2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0005202Helicobacter pylori infection2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002037Inflammation of the large intestine2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0032167Clostridium difficile enteritis2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0025271Esophageal spasms2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002248Hematemesis2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0005249Functional intestinal obstruction2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0005214Intestinal obstruction2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002249Melena2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0005215Frequent Giardia lamblia infestation2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0032168Clostridium difficile colitis2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002592Gastric ulcer2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0032144Coffee ground vomitus2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0030896Abnormal gastrointestinal transit time2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:4000055Intestinal inflammation2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0031857Ineffective esophageal peristalsis2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002584Intestinal bleeding2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0100633Esophagitis2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0031123Recurrent gastroenteritis2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002579Gastrointestinal dysmotility2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002015Dysphagia2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002249Melena2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005215Frequent Giardia lamblia infestation2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032168Clostridium difficile colitis2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002592Gastric ulcer2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0025271Esophageal spasms2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002248Hematemesis2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005249Functional intestinal obstruction2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005214Intestinal obstruction2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0030896Abnormal gastrointestinal transit time2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032144Coffee ground vomitus2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002584Intestinal bleeding2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0100633Esophagitis2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0031123Recurrent gastroenteritis2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002579Gastrointestinal dysmotility2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002015Dysphagia2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:4000055Intestinal inflammation2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0031857Ineffective esophageal peristalsis2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005240Esophageal obstruction2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005202Helicobacter pylori infection2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002037Inflammation of the large intestine2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032167Clostridium difficile enteritis2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0100280Crohn's disease2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002020Gastroesophageal reflux2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002573Hematochezia2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0032144Coffee ground vomitus2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0030896Abnormal gastrointestinal transit time2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002579Gastrointestinal dysmotility2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002015Dysphagia2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:4000055Intestinal inflammation2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0031857Ineffective esophageal peristalsis2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002584Intestinal bleeding2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0100633Esophagitis2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0031123Recurrent gastroenteritis2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002037Inflammation of the large intestine2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0032167Clostridium difficile enteritis2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0100280Crohn's disease2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002020Gastroesophageal reflux2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002573Hematochezia2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005240Esophageal obstruction2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005202Helicobacter pylori infection2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0032168Clostridium difficile colitis2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002592Gastric ulcer2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0025271Esophageal spasms2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002248Hematemesis2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005249Functional intestinal obstruction2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005214Intestinal obstruction2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002249Melena2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005215Frequent Giardia lamblia infestation2TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:4000055Intestinal inflammation2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0031857Ineffective esophageal peristalsis2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002584Intestinal bleeding2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0100633Esophagitis2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0031123Recurrent gastroenteritis2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002579Gastrointestinal dysmotility2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002015Dysphagia2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0100280Crohn's disease2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002020Gastroesophageal reflux2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002573Hematochezia2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005240Esophageal obstruction2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005202Helicobacter pylori infection2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002037Inflammation of the large intestine2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0032167Clostridium difficile enteritis2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0025271Esophageal spasms2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002248Hematemesis2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005249Functional intestinal obstruction2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005214Intestinal obstruction2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002249Melena2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005215Frequent Giardia lamblia infestation2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0032168Clostridium difficile colitis2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002592Gastric ulcer2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0032144Coffee ground vomitus2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0030896Abnormal gastrointestinal transit time2TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0410151Eosinophilic infiltration of the esophagus3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0004389Intestinal pseudo-obstruction3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0030914Abnormal peristalsis3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0031146Impaired oral bolus formation3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0007024Pseudobulbar paralysis3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0012850Small intestinal dysmotility3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0012849Small intestinal bleeding3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005234Neonatal intestinal obstruction3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002583Colitis3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0200136Oral-pharyngeal dysphagia3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0031813Colonic eosinophilia3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002595Ileus3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0410204Increased intestinal transit time3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002068Neuromuscular dysphagia3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005250High intestinal obstruction3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0030897Decreased intestinal transit time3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0410152Eosinophilic microabscess formation in the esophagus3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0031162Impaired oropharyngeal swallow response3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002571Achalasia3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0005250High intestinal obstruction3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0410204Increased intestinal transit time3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002068Neuromuscular dysphagia3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002571Achalasia3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0030897Decreased intestinal transit time3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0410152Eosinophilic microabscess formation in the esophagus3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0031162Impaired oropharyngeal swallow response3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0012850Small intestinal dysmotility3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0012849Small intestinal bleeding3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0410151Eosinophilic infiltration of the esophagus3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004389Intestinal pseudo-obstruction3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0030914Abnormal peristalsis3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0031146Impaired oral bolus formation3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0007024Pseudobulbar paralysis3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002595Ileus3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0005234Neonatal intestinal obstruction3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002583Colitis3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0200136Oral-pharyngeal dysphagia3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0031813Colonic eosinophilia3CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002583Colitis3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0200136Oral-pharyngeal dysphagia3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0031813Colonic eosinophilia3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002595Ileus3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005234Neonatal intestinal obstruction3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002068Neuromuscular dysphagia3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005250High intestinal obstruction3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0410204Increased intestinal transit time3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0031162Impaired oropharyngeal swallow response3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002571Achalasia3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0030897Decreased intestinal transit time3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0410152Eosinophilic microabscess formation in the esophagus3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0030914Abnormal peristalsis3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0031146Impaired oral bolus formation3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0007024Pseudobulbar paralysis3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0012850Small intestinal dysmotility3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0012849Small intestinal bleeding3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0410151Eosinophilic infiltration of the esophagus3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0004389Intestinal pseudo-obstruction3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0005250High intestinal obstruction3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0410204Increased intestinal transit time3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002068Neuromuscular dysphagia3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002571Achalasia3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0030897Decreased intestinal transit time3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0410152Eosinophilic microabscess formation in the esophagus3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0031162Impaired oropharyngeal swallow response3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0007024Pseudobulbar paralysis3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0012850Small intestinal dysmotility3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0012849Small intestinal bleeding3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0410151Eosinophilic infiltration of the esophagus3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004389Intestinal pseudo-obstruction3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0030914Abnormal peristalsis3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0031146Impaired oral bolus formation3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0200136Oral-pharyngeal dysphagia3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0031813Colonic eosinophilia3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002595Ileus3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0005234Neonatal intestinal obstruction3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002583Colitis3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002571Achalasia3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0030897Decreased intestinal transit time3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0410152Eosinophilic microabscess formation in the esophagus3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0031162Impaired oropharyngeal swallow response3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0012849Small intestinal bleeding3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0410151Eosinophilic infiltration of the esophagus3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0004389Intestinal pseudo-obstruction3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0030914Abnormal peristalsis3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0031146Impaired oral bolus formation3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0007024Pseudobulbar paralysis3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0012850Small intestinal dysmotility3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002595Ileus3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005234Neonatal intestinal obstruction3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002583Colitis3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0200136Oral-pharyngeal dysphagia3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0031813Colonic eosinophilia3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0005250High intestinal obstruction3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0410204Increased intestinal transit time3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002068Neuromuscular dysphagia3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0004389Intestinal pseudo-obstruction3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0030914Abnormal peristalsis3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0031146Impaired oral bolus formation3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0007024Pseudobulbar paralysis3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0012850Small intestinal dysmotility3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0012849Small intestinal bleeding3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0410151Eosinophilic infiltration of the esophagus3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005234Neonatal intestinal obstruction3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002583Colitis3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0200136Oral-pharyngeal dysphagia3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0031813Colonic eosinophilia3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002595Ileus3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0410204Increased intestinal transit time3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002068Neuromuscular dysphagia3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0005250High intestinal obstruction3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0410152Eosinophilic microabscess formation in the esophagus3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0031162Impaired oropharyngeal swallow response3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002571Achalasia3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0030897Decreased intestinal transit time3TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0200136Oral-pharyngeal dysphagia3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0031813Colonic eosinophilia3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002595Ileus3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005234Neonatal intestinal obstruction3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002583Colitis3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002068Neuromuscular dysphagia3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0005250High intestinal obstruction3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0410204Increased intestinal transit time3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0031162Impaired oropharyngeal swallow response3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002571Achalasia3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0030897Decreased intestinal transit time3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0410152Eosinophilic microabscess formation in the esophagus3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0007024Pseudobulbar paralysis3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0012850Small intestinal dysmotility3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0012849Small intestinal bleeding3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0410151Eosinophilic infiltration of the esophagus3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0004389Intestinal pseudo-obstruction3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0030914Abnormal peristalsis3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0031146Impaired oral bolus formation3TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0010676Mechanical ileus4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100282Acute colitis4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0004387Enterocolitis4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002590Paralytic ileus4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100771Hypoperistalsis4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0033256Pancolitis4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100770Hyperperistalsis4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100281Chronic colitis4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0033164Focal active colitis4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002590Paralytic ileus4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0100771Hypoperistalsis4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0033256Pancolitis4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0100770Hyperperistalsis4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0100281Chronic colitis4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0033164Focal active colitis4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0010676Mechanical ileus4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0100282Acute colitis4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004387Enterocolitis4CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004387Enterocolitis4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100771Hypoperistalsis4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0033256Pancolitis4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002590Paralytic ileus4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100770Hyperperistalsis4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100281Chronic colitis4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0033164Focal active colitis4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100282Acute colitis4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0010676Mechanical ileus4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0033256Pancolitis4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002590Paralytic ileus4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0100771Hypoperistalsis4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0033164Focal active colitis4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0100770Hyperperistalsis4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0100281Chronic colitis4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0010676Mechanical ileus4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0100282Acute colitis4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004387Enterocolitis4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0100770Hyperperistalsis4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0100281Chronic colitis4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0033164Focal active colitis4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0010676Mechanical ileus4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0100282Acute colitis4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0004387Enterocolitis4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002590Paralytic ileus4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0100771Hypoperistalsis4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0033256Pancolitis4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0100282Acute colitis4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0010676Mechanical ileus4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0004387Enterocolitis4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0100771Hypoperistalsis4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0033256Pancolitis4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002590Paralytic ileus4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0100770Hyperperistalsis4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0100281Chronic colitis4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0033164Focal active colitis4TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0004387Enterocolitis4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0033256Pancolitis4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002590Paralytic ileus4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0100771Hypoperistalsis4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0033164Focal active colitis4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0100770Hyperperistalsis4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0100281Chronic colitis4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0010676Mechanical ileus4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0100282Acute colitis4TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0033165Necrotizing enterocolitis5BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0031857Ineffective esophageal peristalsis5BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100279Ulcerative colitis5BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0004401Meconium ileus5BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0100279Ulcerative colitis5CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0004401Meconium ileus5CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0031857Ineffective esophageal peristalsis5CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0033165Necrotizing enterocolitis5CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0100279Ulcerative colitis5KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0004401Meconium ileus5KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0033165Necrotizing enterocolitis5KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0031857Ineffective esophageal peristalsis5KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0100279Ulcerative colitis5MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004401Meconium ileus5MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0033165Necrotizing enterocolitis5MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0031857Ineffective esophageal peristalsis5MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0004401Meconium ileus5MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0031857Ineffective esophageal peristalsis5MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0033165Necrotizing enterocolitis5MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0100279Ulcerative colitis5MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0033165Necrotizing enterocolitis5TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0031857Ineffective esophageal peristalsis5TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0100279Ulcerative colitis5TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0004401Meconium ileus5TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0100279Ulcerative colitis5TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0004401Meconium ileus5TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0033165Necrotizing enterocolitis5TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0031857Ineffective esophageal peristalsis5TYROBP CL E G H73052770ORPHA011012449604142
HP:0012719HP:0002571Achalasia6BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0012719HP:0002571Achalasia6CCND1 CL E G H59529073ORPHA0291582168461
HP:0012719HP:0002571Achalasia6KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0012719HP:0002571Achalasia6MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0012719HP:0002571Achalasia6MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0012719HP:0002571Achalasia6TREM2 CL E G H542092770ORPHA015417761605086
HP:0012719HP:0002571Achalasia6TYROBP CL E G H73052770ORPHA011012449604142


Genes (678) :AAAS AARS ABCA3 ABCC6 ABCD4 ACOX1 ACTA1 ACTA2 ACTB ACTG2 ACVRL1 ADAM17 ADAMTS2 ADAR ADCY6 ADD3 AFF4 AFG3L2 AGGF1 AGRN AICDA ALDH18A1 ALDOB ALS2 AMER1 ANKRD11 AP2S1 AP3B2 APC APP AR ARHGAP31 ARID1B ARID2 ARNT2 ARV1 ARVCF ARX ASAH1 ASCC1 ASCL1 ASPA ASXL1 ATAD1 ATP11A ATP13A2 ATP1A3 ATP6 ATP6V1A ATP7A ATP7B ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS B2M B4GALNT1 BAZ1B BMPR1A BRAF BRCA1 BRCA2 C12ORF65 C19ORF12 C4A C9ORF72 CACNA1A CACNA1G CAMK2B CAMTA1 CARMIL2 CAV1 CAVIN1 CBS CCDC22 CCDC47 CCN2 CCND1 CCR1 CCR6 CD3E CD3G CD55 CDC6 CDC73 CDK4 CDKL5 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CFTR CHAMP1 CHAT CHCHD10 CHD7 CHMP1A CHMP2B CHRNA1 CHRND CHRNE CIITA CISD2 CLCN1 CLIP2 CLMP CLTC CNKSR2 CNTNAP1 COG4 COG6 COG7 COL13A1 COL3A1 COL5A1 COL7A1 COLQ COMT COQ2 COQ4 COX1 COX2 COX3 CPLX1 CRLF1 CRYAB CSPP1 CTBP1 CTC1 CTHRC1 CTLA4 CTNNB1 CTNS CYFIP2 CYP27A1 CYP7B1 DAB1 DAXX DDC DDHD2 DDIT3 DDOST DEAF1 DGUOK DHCR7 DHDDS DKK1 DLL4 DMPK DNAJB6 DNAJC13 DNM1 DOCK6 DPP9 DSP EBF3 ECE1 ECM1 EDN3 EDNRB EEF1A2 EFEMP2 EHMT1 EIF4G1 ELN ELP1 ENG ENPP1 EOGT EPCAM EPRS ERAP1 ERCC2 ERGIC1 ERLIN2 EWSR1 EXOSC9 EXT2 F11 F2 F5 F7 F9 FAH FAM13A FAN1 FAS FBLN5 FBN1 FBXL4 FBXO7 FCGR2C FERMT1 FGA FGB FGF12 FGFR3 FGFRL1 FGG FLAD1 FLCN FLII FLNA FLVCR1 FMR1 FOXG1 FOXP3 FRG1 FTL FUS FXN GABBR2 GABRB2 GABRD GBA GBA2 GCH1 GDF2 GDNF GEMIN4 GFI1B GFPT1 GIGYF2 GJB1 GLA GLRA1 GLRB GMNN GMPPA GNA11 GNAQ GNS GP1BA GP1BB GP9 GPHN GPIHBP1 GPR35 GRHL2 GRIN2D GTF2I GTF2IRD1 GUCY1A1 GUCY2C HCN1 HDAC8 HGSNAT HIRA HIVEP2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMGA2 HNRNPH2 HOXB1 HPCA HPGD HPRT1 HPS1 HRAS HSD3B7 HTT IARS2 IDH1 IDH2 IDS IGHM IKZF1 IL10 IL10RA IL10RB IL12A IL12A-AS1 IL12B IL12RB1 IL21 IL23R INHBA IQSEC2 IRF2BPL IRF5 IRX5 ITGA2B ITGB3 ITGB4 JAK2 JAK3 JMJD1C KAT6A KAT6B KBTBD13 KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNK9 KIAA0319L KIAA0586 KIF1A KIF23 KIF5A KIT KLHL40 KLHL41 KLHL7 KLRC4 KMT2A KRAS KY LAMA2 LAMB2 LBR LETM1 LIFR LIMK1 LINGO1 LMNB1 LMOD1 LMOD3 LONP1 LRBA LRP5 LRRK2 LTBP4 LYST MAGEL2 MAP2K1 MAP2K2 MAP3K7 MAPT MASP2 MATR3 MCEE MDM2 MECP2 MECR MED17 MEFV MEGF10 MEIS2 MEN1 MFF MGME1 MID1 MLH1 MLH3 MLX MLXIPL MMEL1 MMP1 MNX1 MPL MPZ MRPS34 MSH2 MSH6 MSR1 MST1 MUC5B MVK MYC MYD88 MYH11 MYH7 MYH8 MYLK MYMK MYO9A MYOT MYPN NALCN NBN NCF4 ND1 ND4 ND5 ND6 NDUFA6 NDUFAF2 NDUFS1 NEB NECAP1 NEXMIF NF1 NFKBIA NGLY1 NIPBL NLRC4 NONO NOP56 NOS1 NOTCH1 NOTCH3 NPC1 NPC2 NPHS1 NR4A2 NRTN NRXN1 NSD2 NTNG1 NTRK2 NUP62 NUS1 OCRL OPLAH OPTN ORC1 ORC4 ORC6 PABPN1 PAK1 PALB2 PALLD PANK2 PARN PCNA PDE8B PDGFRA PDGFRB PDP1 PEX16 PFN1 PHGDH PHOX2B PIEZO1 PIEZO2 PIGA PIGN PIK3CA PIK3R5 PLA2G6 PLAA PLCG2 PLEC PLG PLOD1 PLP1 PLVAP PLXND1 PMP22 PMS1 PMS2 PNKD POGZ POLA1 POLG POLG2 POLR3A POLR3B PORCN POU2AF1 PPM1D PPP3CA PRDM16 PRKCG PRKCSH PRKRA PRNP PRPS1 PRTN3 PSAP PSEN1 PSPH PSTPIP1 PTPN22 PTS PUF60 PYCR1 PYROXD1 QDPR RAD21 RAI1 RARS RBPJ REEP1 RERE RET RETREG1 REV3L RFC2 RFX5 RFXANK RFXAP RHBDF2 RIPK1 RLIM RNASEH1 RNF125 RPL10 RPL11 RREB1 RRM2B RTEL1 RYR1 SACS SALL1 SAMD9 SCARB2 SCN3A SCN4A SCN8A SCN9A SDHA SDHB SDHC SDHD SEC23A SEC24C SEC63 SELENON SEMA3C SEMA3D SEMA3E SERPING1 SETBP1 SETD5 SETX SFTPA1 SFTPA2 SFTPC SH2B1 SHANK3 SHROOM4 SIK1 SKI SKIV2L SLC13A5 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC25A1 SLC25A22 SLC25A24 SLC25A4 SLC2A10 SLC35A2 SLC46A1 SLC52A2 SLC52A3 SLC5A7 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC9A3 SLC9A6 SLCO2A1 SMAD3 SMAD4 SMC1A SMC3 SMG9 SNAP25 SNCA SNCAIP SNRPB SOD1 SON SOX10 SOX5 SP110 SPART SPECC1L SPG11 SPG21 SPG7 SPIB SQSTM1 SSR4 STAG1 STAT1 STAT4 STK11 STN1 STUB1 STXBP1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TAF1 TANGO2 TARDBP TBC1D24 TBCE TBK1 TBL2 TBP TBX1 TBX4 TCF4 TECPR2 TEK TERC TERT TET2 TFAP2A TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGM6 TIMM8A TK2 TLR4 TNFAIP3 TNFRSF13B TNFRSF1A TNFSF15 TNPO3 TNXB TP53 TPM2 TPM3 TRAK1 TRAPPC11 TRAPPC12 TREM2 TRIP4 TRMT10C TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TSPYL1 TTBK2 TTC7A TUBB4A TWIST1 TWNK TXN2 TYMP TYROBP UBA5 UBAC2 UBQLN2 UBTF UFD1 VAC14 VAMP1 VAPB VCP VPS13A VPS35 VWF WAS WASHC5 WFS1 WHCR WIPF1 WNK1 WT1 WWOX XIAP YARS2 YWHAG ZFYVE26 ZSWIM6

Diseases (596) :1340 29073 2770 758 264800 177850 774 90308 605258 229600 600740 873 974 567 565 314652 904 117 394 99880 143 652 276152 3463 263501 613489 286 900 79302 144 329 613679 131 327 306900 276700 3002 98881 101041 187900 145981 231200 3287 36426 2796 79301 186 849 273800 729 263300 44890 613471 2924 167 342 131100 176450 343 543 33226 251260 612132 97231 225400 301220 397 508488 2198 97286 2869 617341 1059 609529 230839 538 193400 442835 2032 614857 264470 171430 171433 255310 161800 79107 155310 600376 614328 1901 225154 617008 616368 313772 614487 98914 447757 601162 247604 205100 607225 606353 300373 261250 261584 324708 313200 135900 617808 615926 308350 614266 616867 99803 314911 97297 605039 3197 306674 71517 1171 128235 198 277900 100075 847 301040 309580 98755 164400 603516 183090 276244 276238 276241 109150 94147 164500 98760 608768 174900 115150 613706 1333 289560 275872 98758 183086 458803 616795 617799 614756 618131 220402 220393 613327 7 618268 615615 615607 226300 613805 99971 3095 300672 616579 254210 615911 138 214800 614961 614696 608930 601462 616321 616323 605809 608931 604928 255700 618186 614576 608779 616720 89842 231568 79409 79408 226600 98915 603034 616276 550 194190 399058 397715 612199 219800 100986 615945 608643 320380 615033 99967 300536 614507 819 329314 617070 818 270400 268882 160900 34516 603511 411602 617330 388 530 897 610253 194050 1764 223900 187300 617951 601675 1143 616682 2462 615471 171695 2908 616482 255100 610883 88628 908 93256 261144 613454 158900 157846 606159 95 1606 77260 230900 608013 352641 233910 617913 302800 616835 615510 3205 252940 274 616029 617162 615750 199 300882 252930 616977 300986 614744 224500 300322 203300 3071 617435 163634 601495 613148 615767 213504 618088 611174 158684 600802 457193 85201 606170 98768 607346 612292 201300 98870 617235 606764 615348 617055 319182 496689 258 779 601559 618103 99027 600373 613177 615547 638 157800 617137 601104 600 606070 251120 300260 312750 300673 617282 613668 614399 600987 617086 352447 300000 607736 617664 158300 254940 618198 266 182920 616266 615419 618253 618233 618226 256030 85277 300912 122470 300967 276198 614153 2591 257220 607625 256300 168600 614325 271930 534 613435 224690 613800 613803 164300 618158 216866 216873 607236 234200 615919 228169 608782 614877 614808 79351 616843 617146 447 2059 280633 614080 64753 199351 610217 617527 254361 312080 618183 570 118800 616364 254892 254886 157640 258450 603041 613662 298 94125 610131 447896 607694 264090 614381 2092 617450 605361 210571 612067 600072 301835 249900 607822 79350 69126 261640 13 612940 617258 226 261630 614701 1713 101011 610250 616975 618108 300978 329336 616479 616260 435938 612562 613077 98 107480 617053 254900 617938 99736 99734 684 99735 607812 100050 798 606002 261197 48652 606232 300434 1935 182212 249270 607483 612289 3342 300896 90045 97229 614707 211530 211500 617143 238455 613135 617301 616868 85278 300243 175050 300590 610759 616920 168601 117650 500150 313892 79124 101000 145410 604360 101001 248900 35689 99013 607259 616437 370927 617635 175200 412057 618218 284271 614229 300966 612069 79500 2323 616439 607136 261279 2896 610954 615031 600195 113620 304700 254875 617069 32960 285 609284 615356 617669 486815 616866 616974 168593 608800 98767 243150 98805 128101 617746 609286 478029 617132 300857 617672 617054 251282 108600 608627 200150 906 301000 411590 222300 613561 617865 869 231550 171439 607371 616287 616586 159950 101006 209920 615237 616286 227510 930 213700 90349 209951 83469 618065 300048 609033 304790 324 615947 436174 309900 169500 614700 613960 615273 125310 521426 98916 70595 607459 611376 438114 615190 614602 52503 300352 613795 105400 163746 53351 616878 618213 614816 615582 609192 610168 276193 616744 300635 100996 613834 2241 613559 176000 612567 616050 260005 391487 219700 171 614665 613791 614878
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.