Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 GeneticVariation disease CLINVAR
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		1.000 Biomarker disease CTD_human
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 CausalMutation disease CLINVAR
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.600 Biomarker disease CTD_human
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		0.400 Biomarker phenotype HPO
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.340 Biomarker disease CTD_human
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.300 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.200 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.120 CausalMutation phenotype CLINVAR
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		0.110 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0014394
Disease: Enuresis
Enuresis 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018021
Disease: Goiter
Goiter 		0.100 Biomarker phenotype HPO
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.100 Biomarker disease HPO
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		0.100 Biomarker disease HPO
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		0.100 Biomarker phenotype HPO
CUI: C0020621
Disease: Hypokalemia
Hypokalemia 		0.100 Biomarker phenotype HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.100 Biomarker group HPO
CUI: C0023882
Disease: Little's Disease
Little's Disease 		0.100 CausalMutation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO