Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
1 6 1 0.25 2 0.13
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65
1 10 1 0.25 2 0.11
CUI: C4016344
Disease: PFEIFFER SYNDROME VARIANT
PFEIFFER SYNDROME VARIANT
1 0 1 0.25 0 0
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
PFEIFFER SYNDROME, TYPE III
1 0 1 0.25 0 0
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
1 0 1 0.25 0 0
CUI: C4021041
Disease: Maternal fever in pregnancy
Maternal fever in pregnancy
1 1 1 0.25 1 9.1E-02
CUI: C4022561
Disease: Maternal first trimester fever
Maternal first trimester fever
1 1 1 0.25 1 9.1E-02
CUI: C4022733
Disease: Widened cerebral subarachnoid space
Widened cerebral subarachnoid space
1 1 1 0.25 1 9.1E-02
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes
1 0 1 0.25 0 0
CUI: C4023413
Disease: Anterior plagiocephaly
Anterior plagiocephaly
1 0 1 0.25 0 0
CUI: C4023454
Disease: Metopic depression
Metopic depression
1 0 1 0.25 0 0
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly
1 0 1 0.25 0 0
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone
1 0 1 0.25 0 0
Aplasia/Hypoplasia of the phalanges of the 2nd toe
1 0 1 0.25 0 0
Prolonged somatosensory evoked potentials
1 0 1 0.25 0 0
CUI: C4073134
Disease: Abnormality of the periosteum
Abnormality of the periosteum
1 0 1 0.25 0 0
CUI: C4531131
Disease: Small cerebellar cortex
Small cerebellar cortex
1 0 1 0.25 0 0
CUI: C4531228
Disease: Malalignment of the great toenail
Malalignment of the great toenail
1 0 1 0.25 0 0
Progressive myoclonic epilepsy with dystonia
1 0 1 0.25 0 0
CUI: C0025490
Disease: Mesonephroma
Mesonephroma
2 0 1 0.20 0 0
CUI: C0233767
Disease: Hallucinations, Tactile
Hallucinations, Tactile
2 0 1 0.20 0 0
CUI: C0264306
Disease: Laryngeal Obstruction
Laryngeal Obstruction
2 0 1 0.20 0 0
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis
2 0 1 0.20 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic
2 0 1 0.20 0 0
CUI: C1849227
Disease: Cleft of chin
Cleft of chin
2 0 1 0.20 0 0