Source: CLINVAR

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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 5 1 2000 2015
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 5 1 2000 2015
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: 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: 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: 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: 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: 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: 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: C1837770
Disease: Sparse hair
Sparse 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: C1837260
Disease: Prominent forehead
Prominent 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: C1835238
Disease: Slow-growing nails
Slow-growing nails 		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: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		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: C1832446
Disease: Sparse eyebrow
Sparse 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: C1832348
Disease: Slow-growing hair
Slow-growing 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: C1142533
Disease: Smooth philtrum
Smooth philtrum 		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: 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: 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: 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: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin 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: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb 		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: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		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: C4021959
Disease: Round ear
Round ear 		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: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		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: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		phenotype 0.100 None 0 1