Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		0.100 Biomarker disease HPO
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		0.100 CausalMutation disease CLINVAR
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		0.100 GeneticVariation disease CLINVAR
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		0.100 Biomarker disease HPO
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.100 Biomarker phenotype HPO
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.100 Biomarker disease HPO
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		0.100 Biomarker phenotype HPO
CUI: C1862479
Disease: Absent phalangeal crease
Absent phalangeal crease 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 CausalMutation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0410740
Disease: Acquired deformity of finger
Acquired deformity of finger 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.110 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.110 Biomarker disease BEFREE We retrospectively reviewed a case of proximal junctional kyphosis after posterior spinal fusion for severe kyphoscoliosis in PIEZO2-deficient arthrogryposis. 31770315 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		0.100 Biomarker phenotype HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 Biomarker disease BEFREE Based on the present case, posterior spinal fusion represents a good treatment option for severe spinal deformity in PIEZO2-deficient arthrogryposis. 31770315 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 GeneticVariation disease BEFREE Biallelic loss-of-function mutations in PIEZO2 (i.e., PIEZO2 deficiency) were recently found to cause an arthrogryposis syndrome. 30941898 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.130 CausalMutation disease CLINVAR Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. 27974811 2017