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: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
KIAA1109 0.603 0.654 3.3E-21
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 641
Gene Symbol: BLM
BLM
BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
tectonic family member 2 0.578 0.654 1.8E-14
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 2677
Gene Symbol: GGCX
GGCX
gamma-glutamyl carboxylase 0.678 0.538 2.0E-14
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 3977
Gene Symbol: LIFR
LIFR
LIF receptor subunit alpha 0.523 0.808 1.5E-13
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 4796
Gene Symbol: TONSL
TONSL
tonsoku like, DNA repair protein 0.653 0.615 2.6E-13
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
solute carrier family 25 member 24 0.575 0.731 3.4E-12
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.566 0.615 4.2E-12
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 2314
Gene Symbol: FLII
FLII
FLII actin remodeling protein 0.520 0.808 5.5E-12
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL
adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 None 0 0