Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.020 AlteredExpression group BEFREE A genome-wide association study identified interferon-related development regulator-1 (IFRD1), a protein expressed by neutrophils, as a key modifier gene in cystic fibrosis (CF) lung disease. 23043087 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.030 GeneticVariation disease BEFREE These results showed the association of the IFRD1-rs7817 polymorphism with NP in CF patients. 26397160 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.030 AlteredExpression disease BEFREE In vitro regulation studies showed that CF airway fluid and the CF-characteristic chemokines CXCL8 and CXCL2 down-regulated IFRD1 expression in neutrophils, an effect that was mediated through CXCR2. 23043087 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.030 Biomarker disease BEFREE 12-O-tetradecanoyl phorbol-13-acetate-induced sequence 7/interferon related development regulator 1 (Tis7/IFRD1) has been recently identified as a modifier gene in lung inflammatory disease severity in patients with cystic fibrosis (CF), based upon its capacity to regulate inflammatory activities in neutrophils. 21723850 2011
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0020580
Disease: Hypesthesia
Hypesthesia
0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.100 Biomarker phenotype HPO
CUI: C0231531
Disease: Muscle fibrillation
Muscle fibrillation
0.100 Biomarker phenotype HPO
CUI: C0231690
Disease: Titubation
Titubation
0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
0.100 Biomarker phenotype HPO
CUI: C0239882
Disease: Head tremor
Head tremor
0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.100 Biomarker phenotype HPO
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.100 Biomarker disease HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.100 Biomarker phenotype HPO
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
0.100 Biomarker phenotype HPO
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
0.100 Biomarker phenotype HPO
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014