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: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 2 1 1992 1992
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84984
Gene Symbol: CEP19
CEP19 		centrosomal protein 19 0.729 0.346 1.6E-02
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 54965
Gene Symbol: PIGX
PIGX 		phosphatidylinositol glycan anchor biosynthesis class X 0.780 0.308 2.4E-05
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 1 1 2007 2007
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 3
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 7275
Gene Symbol: TUB
TUB 		TUB bipartite transcription factor 0.659 0.385 3.1E-03
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 2
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 2
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 473
Gene Symbol: RERE
RERE 		arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3 		trafficking protein particle complex 3 0.792 0.385 0.25
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 1
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 2