Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease CTD_human
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 CausalMutation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.300 Biomarker disease CTD_human
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C2930927
Disease: Kallmann syndrome, type 3, recessive
Kallmann syndrome, type 3, recessive 		0.300 Biomarker disease CTD_human
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.200 CausalMutation disease CLINVAR
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.200 Biomarker group HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.160 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.130 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.130 CausalMutation disease CLINVAR
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.130 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.120 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.120 Biomarker disease HPO
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.120 Biomarker disease HPO
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.120 Biomarker phenotype HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.110 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.110 Biomarker disease HPO
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.110 CausalMutation disease CLINVAR