Source: INFERRED

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: 8309
Gene Symbol: ACOX2
ACOX2 		acyl-CoA oxidase 2 0.769 0.423 2.2E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 8785
Gene Symbol: MATN4
MATN4 		matrilin 4 0.769 0.308 1.1E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB 		peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 201595
Gene Symbol: STT3B
STT3B 		STT3 oligosaccharyltransferase complex catalytic subunit B 0.760 0.385 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 limited 1.000 0 0 2013 2013
Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1 		DIMT1 rRNA methyltransferase and ribosome maturation factor 0.760 0.385 3.9E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240 		transmembrane protein 240 0.760 0.231 0.23
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3 		bolA family member 3 0.760 0.231 0.15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 79709
Gene Symbol: COLGALT1
COLGALT1 		collagen beta(1-O)galactosyltransferase 1 0.760 0.346 5.9E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 132158
Gene Symbol: GLYCTK
GLYCTK 		glycerate kinase 0.751 0.308 9.7E-11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		cytoplasmic linker associated protein 1 0.751 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC 		metabolism of cobalamin associated D 0.751 0.385 2.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51501
Gene Symbol: HIKESHI
HIKESHI 		heat shock protein nuclear import factor hikeshi 0.751 0.385 0.52
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 84188
Gene Symbol: FAR1
FAR1 		fatty acyl-CoA reductase 1 0.751 0.423 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1174
Gene Symbol: AP1S1
AP1S1 		adaptor related protein complex 1 subunit sigma 1 0.743 0.308 1.0E-01
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2 		iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 166785
Gene Symbol: MMAA
MMAA 		metabolism of cobalamin associated A 0.743 0.346 9.4E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3 		acyl-CoA synthetase family member 3 0.743 0.308 2.3E-26
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 25930
Gene Symbol: PTPN23
PTPN23 		protein tyrosine phosphatase non-receptor type 23 0.743 0.308 3.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 7
Entrez Id: 6873
Gene Symbol: TAF2
TAF2 		TATA-box binding protein associated factor 2 0.743 0.308 2.6E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7982
Gene Symbol: ST7
ST7 		suppression of tumorigenicity 7 0.743 0.192 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 84317
Gene Symbol: CCDC115
CCDC115 		coiled-coil domain containing 115 0.743 0.308 1.2E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9070
Gene Symbol: ASH2L
ASH2L 		ASH2 like, histone lysine methyltransferase complex subunit 0.743 0.308 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1