IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		phenotype Finding 20 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype Finding 26 7 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 0.100 None 0
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		disease Finding 2 7 0.100 None 0 7
CUI: C4017085
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY 		disease Finding 1 2 0.100 None 0 2
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		disease Anatomical Abnormality 55 5 0.100 None 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype Finding 75 8 0.100 None 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		disease Anatomical Abnormality 42 0.100 None 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		phenotype Finding 29 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.030 None 1.000 3 2015 2018
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0