NRTN, neurturin, 4902

N. diseases: 43; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.150 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.110 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		0.100 Biomarker disease HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		0.100 Biomarker phenotype HPO
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.100 Biomarker disease HPO
CUI: C0243026
Disease: Sepsis
Sepsis 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		0.100 Biomarker disease HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.150 GeneticVariation disease BEFREE Interestingly, it appears that the NTN mutation reported here is not sufficient to cause HSCR, and this multiplex family also segregates a RET mutation. 9700200 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.150 Biomarker disease BEFREE Recently, germline mutations of RET, GDNF, and NTN genes have been reported in HSCR. 10946353 2000
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.020 Biomarker disease BEFREE Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement. 10946353 2000
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 Biomarker disease BEFREE Expression analysis of RET and the GDNF/GFRalpha-1 and NTN/GFRalpha-2 ligand complexes in pheochromocytomas and paragangliomas. 10998441 2000
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 Biomarker disease BEFREE Expression analysis of RET and the GDNF/GFRalpha-1 and NTN/GFRalpha-2 ligand complexes in pheochromocytomas and paragangliomas. 10998441 2000
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 Biomarker disease BEFREE Expression analysis of RET and the GDNF/GFRalpha-1 and NTN/GFRalpha-2 ligand complexes in pheochromocytomas and paragangliomas. 10998441 2000
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.150 Biomarker disease BEFREE Germline mutations of the RET proto-oncogene (RET), its ligand glial cell-derived neurotrophic factor (GDNF), and neurturin (NTN) gene have been reported in patients with Hirschsprung's disease. 11316186 2001
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		0.020 GeneticVariation disease BEFREE Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement. 11685702 2001