Source: ALL

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: 157570
Gene Symbol: ESCO2
ESCO2 		establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.800 None 1.000 21 28 1979 2019
Entrez Id: 9126
Gene Symbol: SMC3
SMC3 		structural maintenance of chromosomes 3 0.535 0.846 1.00
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.020 None 1.000 2 0 2008 2011
Entrez Id: 114799
Gene Symbol: ESCO1
ESCO1 		establishment of sister chromatid cohesion N-acetyltransferase 1 0.682 0.462 1.00
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 9183
Gene Symbol: ZW10
ZW10 		zw10 kinetochore protein 0.792 0.192 1.5E-03
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6097
Gene Symbol: RORC
RORC 		RAR related orphan receptor C 0.576 0.769 1.00
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4500
Gene Symbol: MT1L
MT1L 		metallothionein 1L, pseudogene 0.633 0.692
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 4241
Gene Symbol: MELTF
MELTF 		melanotransferrin 0.663 0.500 1.2E-16
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 26039
Gene Symbol: SS18L1
SS18L1 		SS18L1 subunit of BAF chromatin remodeling complex 0.670 0.538 0.98
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 1991 1991
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1663
Gene Symbol: DDX11
DDX11 		DEAD/H-box helicase 11 0.674 0.577 2.3E-21
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 94033
Gene Symbol: FTMT
FTMT 		ferritin mitochondrial 0.686 0.423 5.6E-03
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease 0.010 None 1.000 1 0 2020 2020