Source: HPO

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: 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 0 2001 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: 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: 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: C1856963
Disease: Fragile nails
Fragile nails 		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: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		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: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		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: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		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: C1860825
Disease: Accelerated bone age after puberty
Accelerated bone age after puberty 		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: C1860826
Disease: Coxa Magna
Coxa Magna 		disease 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 0
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 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		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: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of 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: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		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: 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: 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: 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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0