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: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.140 None 0.500 0 0 2007 2019
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0741796
Disease: Recurrent bronchitis
Recurrent bronchitis 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.200 None 0.891 0 0 2002 2019
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0426415
Disease: Large nose
Large nose 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 0.500 None 1.000 0 0 2004 2019
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		phenotype 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C4021020
Disease: Non-midline cleft lip
Non-midline cleft lip 		disease 0.100 None 0 0