Source: ORPHANET

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: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.310 None 1.000 1 0 2002 2003
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C 		jumonji domain containing 1C 0.517 0.769 1.00
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 6239
Gene Symbol: RREB1
RREB1 		ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		SEC24 homolog C, COPII coat complex component 0.543 0.808 1.00
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 1312
Gene Symbol: COMT
COMT 		catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 0 0
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		ARVCF delta catenin family member 0.540 0.769 5.0E-11
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 0 0
Entrez Id: 7353
Gene Symbol: UFD1
UFD1 		ubiquitin recognition factor in ER associated degradation 1 0.537 0.769 1.00
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 0 0