Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 CausalMutation disease CLINVAR
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.400 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.110 Biomarker disease HPO
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		0.110 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.100 Biomarker disease HPO
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		0.100 Biomarker disease HPO
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker phenotype HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0027443
Disease: Natal Teeth
Natal Teeth 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		0.100 Biomarker disease HPO
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		0.100 Biomarker disease HPO