IFT52, intraflagellar transport 52, 51098

N. diseases: 67; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0239399
Disease: Short extremities
Short extremities 		0.100 Biomarker phenotype HPO
CUI: C0239676
Disease: High forehead
High forehead 		0.100 Biomarker phenotype HPO
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		0.100 Biomarker disease HPO
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 Biomarker phenotype HPO
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.100 Biomarker phenotype HPO
CUI: C0426789
Disease: Short thorax
Short thorax 		0.100 Biomarker phenotype HPO
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.100 Biomarker phenotype HPO
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		0.100 Biomarker phenotype HPO
CUI: C1837770
Disease: Sparse hair
Sparse hair 		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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.100 Biomarker phenotype HPO
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		0.100 Biomarker phenotype HPO