Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
0.720 Biomarker disease CTD_human
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
0.720 CausalMutation disease CLINVAR
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia
0.600 Biomarker disease HPO
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia
0.600 Biomarker disease CTD_human
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4
0.600 CausalMutation disease CLINVAR
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 Biomarker disease HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.100 Biomarker disease HPO
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.100 Biomarker disease HPO
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 Biomarker group HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.100 Biomarker disease HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
0.100 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.100 Biomarker disease HPO
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
0.100 Biomarker disease HPO
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease HPO
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
0.100 Biomarker disease HPO
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip
0.100 Biomarker phenotype HPO
CUI: C0431447
Disease: Synophrys
Synophrys
0.100 Biomarker disease HPO
CUI: C0521525
Disease: Short neck
Short neck
0.100 Biomarker phenotype HPO