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: 10274
Gene Symbol: STAG1
STAG1 		stromal antigen 1 0.656 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP 		TRAF interacting protein 0.644 0.654 1.6E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10297
Gene Symbol: APC2
APC2 		APC regulator of WNT signaling pathway 2 0.582 0.654 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.410 strong 1.000 0 0 2012 2019
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1 		katanin regulatory subunit B1 0.674 0.346 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1 		ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10352
Gene Symbol: WARS2
WARS2 		tryptophanyl tRNA synthetase 2, mitochondrial 0.617 0.577 5.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10367
Gene Symbol: MICU1
MICU1 		mitochondrial calcium uptake 1 0.638 0.654 1.9E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		tubulin beta 3 class III 0.486 0.808 2.6E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2015 2016
Entrez Id: 10459
Gene Symbol: MAD2L2
MAD2L2 		mitotic arrest deficient 2 like 2 0.547 0.731 8.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 limited 1.000 0 0 2015 2015
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 0 2015 2015
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2011 2014
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B 		SEC23 homolog B, COPII coat complex component 0.579 0.692 6.1E-20
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10518
Gene Symbol: CIB2
CIB2 		calcium and integrin binding family member 2 0.545 0.808 1.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 0 0 2014 2017
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A 		ribonuclease H2 subunit A 0.592 0.692 4.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2 		ADP ribosylation factor guanine nucleotide exchange factor 2 0.659 0.462 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 10577
Gene Symbol: NPC2
NPC2 		NPC intracellular cholesterol transporter 2 0.612 0.769 1.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS 		methenyltetrahydrofolate synthetase 0.678 0.500 2.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10664
Gene Symbol: CTCF
CTCF 		CCCTC-binding factor 0.504 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		phenylalanyl-tRNA synthetase 2, mitochondrial 0.615 0.731 9.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10681
Gene Symbol: GNB5
GNB5 		G protein subunit beta 5 0.736 0.308 6.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0