Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426439
Disease: Narrow nostrils
Narrow nostrils
0.100 Biomarker phenotype HPO
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
0.100 Biomarker phenotype HPO
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis
0.100 Biomarker disease HPO
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
0.100 Biomarker disease HPO
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction
0.100 Biomarker disease HPO
Increased susceptibility to fractures
0.100 Biomarker phenotype HPO
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
0.100 Biomarker phenotype HPO
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
0.100 Biomarker phenotype HPO
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
0.100 Biomarker phenotype HPO
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue
0.100 Biomarker phenotype HPO
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
0.100 Biomarker phenotype HPO
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe
0.100 Biomarker phenotype HPO
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip
0.100 Biomarker phenotype HPO
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance
0.100 Biomarker phenotype HPO
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
0.100 Biomarker phenotype HPO
CUI: C1861324
Disease: Short philtrum
Short philtrum
0.100 Biomarker phenotype HPO
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
0.100 Biomarker phenotype HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
0.100 Biomarker disease HPO
CUI: C4025867
Disease: Abnormality of the forehead
Abnormality of the forehead
0.100 Biomarker phenotype HPO
CUI: C4317152
Disease: Dimple chin
Dimple chin
0.100 Biomarker phenotype HPO
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge
0.100 Biomarker phenotype HPO
CUI: C0030193
Disease: Pain
Pain
0.060 GeneticVariation phenotype BEFREE Few associations replicated: morphine dose (mcg/kg) in African American children and ABCB1 rs1045642 (A allele, β = -9.30, 95% CI: -17.25 to -1.35, p = 0.02) and OPRM1 rs1799971 (G allele, β = 23.19, 95% CI: 3.27-43.11, p = 0.02); KCNJ6 rs2211843 and high pain in African American subjects (T allele, OR 2.08, 95% CI: 1.17-3.71, p = 0.01) and in congruent European Caucasian pain phenotypes; and COMT rs740603 for high pain in European Caucasian subjects (A allele, OR: 0.69, 95% CI: 0.48-0.99, p = 0.046). 30760877 2019
CUI: C0030193
Disease: Pain
Pain
0.060 GeneticVariation phenotype BEFREE Patients with the COMT G472A-AA genotype (rs4680) and KCNJ6 A1032G-A allele (rs2070995) CLBP responded differently to opioid titration, with higher pain intensity requiring higher dosing. 31269327 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.060 AlteredExpression disease BEFREE Therefore, over expression of GIRK2 in the brain is necessary, but not sufficient to confer susceptibility to the GABA<sub>B</sub>R agonist-induced IS phenotype in the Ts model of DS. 29929098 2018
CUI: C0030193
Disease: Pain
Pain
0.060 AlteredExpression phenotype BEFREE Pain related KCNJ6 mRNA expression as well as K + current was increased after ZPE-LR treatment in BV-2 cells. 29883943 2018