Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
0.100 Biomarker phenotype HPO
Abnormal upper motor neuron morphology
0.100 Biomarker disease HPO
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation
0.100 Biomarker phenotype HPO
Abnormality of pelvic girdle bone morphology
0.100 Biomarker disease HPO
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
0.100 Biomarker group HPO
Abnormality of the dorsal column of the spinal cord
0.100 Biomarker phenotype HPO
Abnormality of the periventricular white matter
0.100 Biomarker disease HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 GeneticVariation disease BEFREE Autosomal dominant (AD) complex HSP with skeletal abnormalities are consistently seen only in SPG9 (spastic gait type 9). 30029526 2018
CUI: C1854882
Disease: Absent speech
Absent speech
0.100 Biomarker phenotype HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
0.100 Biomarker phenotype HPO
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot
0.010 Biomarker disease BEFREE Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth with hypotonia, dysmorphic signs, pes planus and clonic seizures. 15517380 2005
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
0.100 Biomarker disease HPO
CUI: C3554617
Disease: Adducted thumb
Adducted thumb
0.100 CausalMutation phenotype CLINVAR
CUI: C3554617
Disease: Adducted thumb
Adducted thumb
0.100 Biomarker phenotype HPO
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.010 GeneticVariation disease BEFREE Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations. 23963297 2014
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder
0.100 Biomarker disease HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.100 Biomarker disease HPO
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis
0.100 Biomarker disease HPO
CUI: C0004158
Disease: Athetosis
Athetosis
0.100 Biomarker phenotype HPO
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum
0.100 Biomarker disease HPO
Atrophy of quadriceps femoris muscle
0.100 CausalMutation phenotype CLINVAR
CUI: C1389102
Disease: Atrophy of the spinal cord
Atrophy of the spinal cord
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
0.020 GeneticVariation disease BEFREE One gene within the candidate interval, ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), was considered a plausible disease gene since a missense mutation had previously been shown to cause progressive neurodegeneration, cataracts, skin laxity, joint dislocations and metabolic derangement in a consanguineous Algerian family. 18478038 2008