Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease 0.690 None 1.000 0 2 1995 2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.130 None 1.000 0 0 2015 2018
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.130 None 1.000 0 2 2001 2019
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1843108
Disease: Short palm
Short palm 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1844709
Disease: Radial deviation of the 2nd finger
Radial deviation of the 2nd finger 		phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1844891
Disease: Ulnar deviation of the 2nd finger
Ulnar deviation of the 2nd finger 		phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		phenotype 0.100 None 0 2
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1849221
Disease: Fair hair
Fair hair 		phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		disease 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		phenotype 0.100 None 0 0