Source: ANIMAL_MODELS

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: 3290
Gene Symbol: HSD11B1
HSD11B1 		hydroxysteroid 11-beta dehydrogenase 1 0.520 0.731 0.42
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		disease 0.200 None 1.000 6 0 1997 2004
Entrez Id: 353
Gene Symbol: APRT
APRT 		adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		disease 0.800 None 1.000 4 0 1985 2012
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 1.000 definitive 1.000 1 0 2001 2020
Entrez Id: 4232
Gene Symbol: MEST
MEST 		mesoderm specific transcript 0.631 0.538 0.40
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		disease 0.200 None 1.000 2 0 1998 2002
Entrez Id: 2280
Gene Symbol: FKBP1A
FKBP1A 		FKBP prolyl isomerase 1A 0.641 0.654 0.81
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		disease 0.210 None 1.000 1 0 1998 2008
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		disease 0.900 None 1.000 2 0 2001 2016
Entrez Id: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		disease 0.900 definitive 1.000 2 0 1987 2017
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		FRAS1 related extracellular matrix 1 0.633 0.423 1.6E-52
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		disease 0.200 None 1.000 3 0 2004 2011
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 1.000 2 0 2011 2012
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 1.000 1 0 2014 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 1.000 1 0 2019 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.230 None 1.000 1 0 2000 2017
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 1.000 1 0 2018 2018
Entrez Id: 545
Gene Symbol: ATR
ATR 		ATR serine/threonine kinase 0.456 0.923 3.5E-09
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		centromere protein J 0.546 0.846 2.1E-27
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 0 0
Entrez Id: 80254
Gene Symbol: CEP63
CEP63 		centrosomal protein 63 0.666 0.500 6.2E-25
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.200 None 0 0
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A 		PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 1489
Gene Symbol: CTF1
CTF1 		cardiotrophin 1 0.636 0.423 4.2E-02
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0
Entrez Id: 23410
Gene Symbol: SIRT3
SIRT3 		sirtuin 3 0.488 0.731 1.6E-04
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C 		guanylate cyclase 2C 0.599 0.577 1.4E-30
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0
Entrez Id: 3952
Gene Symbol: LEP
LEP 		leptin 0.349 0.846 0.46
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0
Entrez Id: 5584
Gene Symbol: PRKCI
PRKCI 		protein kinase C iota 0.584 0.500 6.8E-02
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0
Entrez Id: 79661
Gene Symbol: NEIL1
NEIL1 		nei like DNA glycosylase 1 0.623 0.769 5.0E-07
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0