NTF4, neurotrophin 4, 4909

N. diseases: 46; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751294
Disease: GLAUCOMA 1, OPEN ANGLE, O
GLAUCOMA 1, OPEN ANGLE, O 		0.700 GeneticVariation disease UNIPROT No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. 20215012 2010
CUI: C2751294
Disease: GLAUCOMA 1, OPEN ANGLE, O
GLAUCOMA 1, OPEN ANGLE, O 		0.700 GeneticVariation disease UNIPROT Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. 19765683 2009
CUI: C2751294
Disease: GLAUCOMA 1, OPEN ANGLE, O
GLAUCOMA 1, OPEN ANGLE, O 		0.700 CausalMutation disease CLINVAR
CUI: C2751294
Disease: GLAUCOMA 1, OPEN ANGLE, O
GLAUCOMA 1, OPEN ANGLE, O 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2751294
Disease: GLAUCOMA 1, OPEN ANGLE, O
GLAUCOMA 1, OPEN ANGLE, O 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2751294
Disease: GLAUCOMA 1, OPEN ANGLE, O
GLAUCOMA 1, OPEN ANGLE, O 		0.700 Biomarker disease CTD_human
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.500 Therapeutic phenotype CTD_human Differential damage to auditory neurons and hair cells by ototoxins and neuroprotection by specific neurotrophins in rat cochlear organotypic cultures. 8921280 1996
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.500 Therapeutic phenotype CTD_mouse Differential damage to auditory neurons and hair cells by ototoxins and neuroprotection by specific neurotrophins in rat cochlear organotypic cultures. 8921280 1996
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human Concentrations of NT-4/5 and CGRP were correlated in infants with autism but not in Down syndrome or controls. 16289943 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950 2001
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950 2001
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.100 Biomarker disease HPO
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.040 Biomarker disease BEFREE NTF4 is functionally related to POAG pathogenesis but its mutation frequency is low. 22815630 2012
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.040 GeneticVariation disease BEFREE We identified a novel NTF4 missense mutation substituting leucine by serine at codon 113 (Leu113Ser) caused by a c.338T>C mutation in a single patient with unilateral POAG, who presented with a baseline intraocular pressure of 25 mmHg, a vertical cup-to-disc ratio of 0.9 and an inferior hemifield defect in the affected eye. 20806036 2010
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.040 GeneticVariation disease BEFREE Resequencing of NTF4 revealed a nonsynonymous (A88V), silent (P151P) and two changes in the 3'UTR region, along with a known polymorphism (rs11669977) in cases of POAG; the PACG cases exhibited only the A88V variation. 20463313 2010
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.040 GeneticVariation disease BEFREE Here, we report seven different heterozygous mutations in the Neurotrophin-4 (NTF4) gene accounting for about 1.7% of primary open-angle glaucoma patients of European origin. 19765683 2009
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.030 AlteredExpression disease BEFREE Serum NTF3 and NTF4 levels, body mass index (BMI), fasting serum glucose and lipid profile: cholesterol, triglyceride, high-density lipoprotein (HDL-C) and low-density lipoprotein (LDL-C) were measured at baseline and week 8 in 133 women: 55 patients with schizophrenia (19 with first-episode and 36 chronic), 30 patients with a first-episode depression and 48 healthy controls. 30654674 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.030 Biomarker disease BEFREE At baseline, the severity of depression (Montgomery-Asberg Depression Rating Scale [MADRS]), serum NGF, NT-3, and NT-4 were estimated. 30932945 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.030 AlteredExpression disease BEFREE Serum NTF3 and NTF4 levels, body mass index (BMI), fasting serum glucose and lipid profile: cholesterol, triglyceride, high-density lipoprotein (HDL-C) and low-density lipoprotein (LDL-C) were measured at baseline and week 8 in 133 women: 55 patients with schizophrenia (19 with first-episode and 36 chronic), 30 patients with a first-episode depression and 48 healthy controls. 30654674 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.030 Biomarker disease BEFREE At baseline, the severity of depression (Montgomery-Asberg Depression Rating Scale [MADRS]), serum NGF, NT-3, and NT-4 were estimated. 30932945 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.030 AlteredExpression phenotype BEFREE Serum NTF3 and NTF4 levels, body mass index (BMI), fasting serum glucose and lipid profile: cholesterol, triglyceride, high-density lipoprotein (HDL-C) and low-density lipoprotein (LDL-C) were measured at baseline and week 8 in 133 women: 55 patients with schizophrenia (19 with first-episode and 36 chronic), 30 patients with a first-episode depression and 48 healthy controls. 30654674 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.030 Biomarker phenotype BEFREE At baseline, the severity of depression (Montgomery-Asberg Depression Rating Scale [MADRS]), serum NGF, NT-3, and NT-4 were estimated. 30932945 2019