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: 7014
Gene Symbol: TERF2
TERF2 		telomeric repeat binding factor 2 0.541 0.731 0.99
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.200 None 0 0
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		disease 0.340 None 1.000 1 0 2000 2019
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A 		SH2 domain containing 1A 0.525 0.731 0.39
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		disease 1.000 strong 0.972 6 0 1998 2020
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		disease 1.000 None 0.984 1 0 1986 2020
Entrez Id: 50945
Gene Symbol: TBX22
TBX22 		T-box transcription factor 22 0.603 0.577 0.98
CUI: C4707825
Disease: X-linked cleft palate and ankyloglossia
X-linked cleft palate and ankyloglossia 		disease 0.540 None 1.000 1 0 2001 2011
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease 1.000 None 0.964 8 0 1975 2020
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease 0.210 None 1.000 5 0 1999 2014
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease 1.000 strong 1.000 3 0 1994 2019
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease 1.000 strong 0.989 3 0 1976 2020
Entrez Id: 493856
Gene Symbol: CISD2
CISD2 		CDGSH iron sulfur domain 2 0.590 0.692 0.42
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		disease 0.900 None 1.000 1 0 2007 2019
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		disease 0.980 None 1.000 5 0 1998 2018
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		disease 0.900 definitive 0.973 5 0 1999 2019
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		disease 0.200 None 0 0
Entrez Id: 53834
Gene Symbol: FGFRL1
FGFRL1 		fibroblast growth factor receptor like 1 0.588 0.615 1.2E-02
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		disease 0.510 None 1.000 1 0 2009 2017
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		disease 0.900 None 0.963 1 0 1998 2019
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3 		eukaryotic translation initiation factor 2 alpha kinase 3 0.501 0.808 2.8E-03
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		disease 1.000 None 0.964 3 0 1995 2019
Entrez Id: 7454
Gene Symbol: WAS
WAS 		WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease 1.000 definitive 0.987 2 0 1994 2020
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3 		forkhead box P3 0.368 0.846 0.99
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease 0.240 None 1.000 1 0 1990 2014
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.600 None 0.963 4 0 1999 2019
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I 		general transcription factor IIi 0.500 0.808 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.600 None 0.975 2 0 1998 2019
Entrez Id: 8326
Gene Symbol: FZD9
FZD9 		frizzled class receptor 9 0.743 0.308 1.9E-03
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.240 None 1.000 2 0 1999 2011
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B 		bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.600 None 1.000 2 0 1998 2017
Entrez Id: 1742
Gene Symbol: DLG4
DLG4 		discs large MAGUK scaffold protein 4 0.595 0.654 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.510 None 1.000 1 0 2010 2010
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1 		LIM domain kinase 1 0.488 0.731 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.600 limited 0.867 1 0 1998 2019
Entrez Id: 6714
Gene Symbol: SRC
SRC 		SRC proto-oncogene, non-receptor tyrosine kinase 0.467 0.885 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.200 None 1.000 1 0 2015 2015