BICD2, BICD cargo adaptor 2, 23299

N. diseases: 97; N. variants: 9
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 147 27 0.100 None 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		phenotype Finding 50 4 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 3 0.100 None 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 36 4 0.100 None 0 1
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 91 19 0.100 None 0 2
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0 1
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype Finding 96 11 0.100 None 0 1
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 69 20 0.100 None 0 1
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.100 None 0 1
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0 1
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 27 2 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 14 0.100 None 0 1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 1
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype Finding 12 15 0.100 None 0 1
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0 1