RAB11B, RAB11B, member RAS oncogene family, 9230

N. diseases: 55; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
0.100 Biomarker phenotype HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 Biomarker phenotype HPO
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
0.100 Biomarker phenotype HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
0.100 Biomarker phenotype HPO
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
0.100 Biomarker phenotype HPO
CUI: C0920299
Disease: Overriding toe
Overriding toe
0.100 Biomarker disease HPO
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
0.100 Biomarker phenotype HPO
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
0.100 Biomarker disease HPO
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
0.100 Biomarker phenotype HPO
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
0.100 Biomarker phenotype HPO
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
0.100 Biomarker phenotype HPO
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia
0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech
0.100 Biomarker phenotype HPO
CUI: C1856115
Disease: Happy demeanor
Happy demeanor
0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
0.100 Biomarker phenotype HPO
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
0.100 Biomarker disease HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
0.100 Biomarker phenotype HPO