TBCD, tubulin folding cofactor D, 6904

N. diseases: 129; N. variants: 24
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: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
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: C0401149
Disease: Chronic constipation
Chronic constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 7 0.100 None 0
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		phenotype Wounds and Injuries Finding 6 1 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 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: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype Finding 29 6 0.100 None 0
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		phenotype Finding 27 4 0.100 None 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 112 10 0.100 None 0