Source: CLINVAR

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: 9757
Gene Symbol: KMT2B
KMT2B 		lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E 		inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 2
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 4
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		zinc finger protein 292 0.695 0.423 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		BICD cargo adaptor 2 0.615 0.731 0.98
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		SATB homeobox 2 0.503 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 4613
Gene Symbol: MYCN
MYCN 		MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		chimerin 1 0.573 0.615 3.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 79053
Gene Symbol: ALG8
ALG8 		ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1