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: 11224
Gene Symbol: RPL35
RPL35
ribosomal protein L35 0.805 0.346 0.55
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 4571
Gene Symbol: TRNP
TRNP
tRNA 0.792 0.423
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 79048
Gene Symbol: SECISBP2
SECISBP2
SECIS binding protein 2 0.792 0.269 2.2E-18
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 131669
Gene Symbol: UROC1
UROC1
urocanate hydratase 1 0.780 0.385 2.1E-15
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
collagen type XXVII alpha 1 chain 0.780 0.269 0.59
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 51109
Gene Symbol: RDH11
RDH11
retinol dehydrogenase 11 0.769 0.346 1.1E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
phosphorylase kinase regulatory subunit beta 0.769 0.269 1.6E-21
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 6155
Gene Symbol: RPL27
RPL27
ribosomal protein L27 0.769 0.385 0.85
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 1781
Gene Symbol: DYNC1I2
DYNC1I2
dynein cytoplasmic 1 intermediate chain 2 0.760 0.385 1.1E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 64412
Gene Symbol: GZF1
GZF1
GDNF inducible zinc finger protein 1 0.760 0.231 1.8E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 9918
Gene Symbol: NCAPD2
NCAPD2
non-SMC condensin I complex subunit D2 0.760 0.346 1.1E-12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 122553
Gene Symbol: TRAPPC6B
TRAPPC6B
trafficking protein particle complex 6B 0.751 0.308 1.5E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2
Tctex1 domain containing 2 0.751 0.346 3.2E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6218
Gene Symbol: RPS17
RPS17
ribosomal protein S17 0.751 0.462 0.33
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10940
Gene Symbol: POP1
POP1
POP1 homolog, ribonuclease P/MRP subunit 0.743 0.346 2.8E-13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 23729
Gene Symbol: SHPK
SHPK
sedoheptulokinase 0.743 0.346 1.0E-16
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3
alkaline ceramidase 3 0.743 0.423 0.87
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 6141
Gene Symbol: RPL18
RPL18
ribosomal protein L18 0.743 0.385 0.97
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 90121
Gene Symbol: TSR2
TSR2
TSR2 ribosome maturation factor 0.743 0.500 0.80
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 93587
Gene Symbol: TRMT10A
TRMT10A
tRNA methyltransferase 10A 0.743 0.385 3.9E-10
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
adenosine deaminase tRNA specific 3 0.736 0.385 5.6E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 26100
Gene Symbol: WIPI2
WIPI2
WD repeat domain, phosphoinositide interacting 2 0.736 0.308 6.4E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.400 strong 1.000 0 0 2019 2019