BCR, BCR activator of RhoGEF and GTPase, 613

N. diseases: 392; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 Biomarker disease HPO
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology 		0.100 Biomarker phenotype HPO
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.100 Biomarker phenotype HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.100 Biomarker phenotype HPO
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		0.100 Biomarker phenotype HPO
CUI: C1836047
Disease: Long face
Long face 		0.100 Biomarker phenotype HPO
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.100 Biomarker phenotype HPO
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		0.100 Biomarker phenotype HPO
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.100 Biomarker phenotype HPO
CUI: C1843108
Disease: Short palm
Short palm 		0.100 Biomarker phenotype HPO
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.100 Biomarker phenotype HPO
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		0.100 Biomarker phenotype HPO
CUI: C1844555
Disease: Absent toenail
Absent toenail 		0.100 Biomarker phenotype HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1850780
Disease: Reduced leukocyte alkaline phosphatase
Reduced leukocyte alkaline phosphatase 		0.100 Biomarker phenotype HPO
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		0.100 Biomarker phenotype HPO
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.100 Biomarker disease HPO