Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease 0.500 strong 0.991 0 0 1974 2019
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0004096
Disease: Asthma
Asthma 		disease 0.150 None 1.000 0 0 2003 2019
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group 0.130 None 1.000 0 0 2015 2019
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.120 None 1.000 0 0 2018 2018
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0032285
Disease: Pneumonia
Pneumonia 		disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group 0.110 None 1.000 0 0 2005 2005
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C4476743
Disease: Anti-thyroid peroxidase antibody positivity
Anti-thyroid peroxidase antibody positivity 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1399128
Disease: Growth arrest lines
Growth arrest lines 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		disease 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		phenotype 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		disease 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		adenosine deaminase 0.440 0.885 2.9E-12
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype 0.100 None 0 0