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: 9842
Gene Symbol: PLEKHM1
PLEKHM1 		pleckstrin homology and RUN domain containing M1 0.691 0.577 8.1E-03
CUI: C1969093
Disease: Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 6 		disease 0.800 limited 1.000 1 0 2007 2016
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5 		fibulin 5 0.546 0.692 1.00
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.700 limited 1.000 0 0 2002 2018
Entrez Id: 1536
Gene Symbol: CYBB
CYBB 		cytochrome b-245 beta chain 0.452 0.885 1.00
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group 0.900 limited 0.986 0 0 1987 2020
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1 		cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		disease 0.800 limited 1.000 0 0 1998 2019
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		dynamin 2 0.542 0.769 1.00
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease 0.900 limited 0.982 0 0 2005 2019
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		disease 0.770 limited 1.000 0 0 2007 2019
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.650 limited 1.000 0 0 2010 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease 1.000 limited 0.981 0 0 1975 2019
Entrez Id: 580
Gene Symbol: BARD1
BARD1 		BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 1.000 limited 0.896 0 0 1996 2020
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		disease 0.900 limited 1.000 0 0 1993 2011
Entrez Id: 7415
Gene Symbol: VCP
VCP 		valosin containing protein 0.469 0.923 1.00
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 		disease 0.900 limited 1.000 0 0 2004 2019
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4 		latent transforming growth factor beta binding protein 4 0.604 0.654 0.50
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.600 limited 1.000 0 0 2013 2013
Entrez Id: 8864
Gene Symbol: PER2
PER2 		period circadian regulator 2 0.488 0.846 0.71
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		disease 0.800 limited 1.000 0 0 2001 2001
Entrez Id: 114327
Gene Symbol: EFHC1
EFHC1 		EF-hand domain containing 1 0.659 0.231 1.9E-17
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease 1.000 disputed 0.979 1 0 1993 2019
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		phenotype 0.500 disputed 1.000 1 0 2001 2016
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		phenotype 0.500 disputed 1.000 1 0 2001 2016
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		disease 0.500 disputed 1.000 1 0 2001 2016
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.530 disputed 0.917 1 0 2001 2016
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		phenotype 0.500 disputed 1.000 1 0 2001 2016
Entrez Id: 1363
Gene Symbol: CPE
CPE 		carboxypeptidase E 0.584 0.692 0.99
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.730 moderate 0.923 8 0 1991 2013
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		disease 0.800 moderate 1.000 5 0 1998 2016
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 1.000 moderate 1.000 4 0 1994 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN 		granulin precursor 0.435 0.846 7.0E-02
CUI: C1843792
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		disease 0.980 moderate 1.000 4 0 2006 2018
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		glycine receptor alpha 1 0.628 0.500 1.6E-04
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		phenotype 0.700 moderate 0.979 3 0 1992 2019
Entrez Id: 55806
Gene Symbol: HR
HR 		HR lysine demethylase and nuclear receptor corepressor 0.722 0.192 7.4E-10
CUI: C1859877
Disease: Alopecia universalis congenita
Alopecia universalis congenita 		disease 0.900 moderate 1.000 3 0 1998 2014