IFT122, intraflagellar transport 122, 55764

N. diseases: 135; N. variants: 14
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: C0239399
Disease: Short extremities
Short extremities 		0.100 CausalMutation phenotype CLINVAR
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 Biomarker disease HPO
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.100 Biomarker disease HPO
CUI: C0267834
Disease: Liver cyst
Liver cyst 		0.100 Biomarker disease HPO
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.100 Biomarker disease HPO
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 Biomarker phenotype HPO
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		0.100 Biomarker phenotype HPO
CUI: C0423823
Disease: Thin nails
Thin nails 		0.100 Biomarker phenotype HPO
CUI: C0423867
Disease: Fine hair
Fine hair 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 CausalMutation phenotype CLINVAR
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.100 Biomarker phenotype HPO
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.100 Biomarker phenotype HPO
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 Biomarker phenotype HPO
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 Biomarker phenotype HPO
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 Biomarker group HPO
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.100 Biomarker group HPO
CUI: C1832117
Disease: Short humerus
Short humerus 		0.100 Biomarker phenotype HPO
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		0.100 Biomarker phenotype HPO