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: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.598 0.621 7.8E-47
Muscular dystrophy congenital, merosin negative
disease 1.000 0.962 7 0 1955 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.521 0.655 0.23
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
disease 1.000 0.976 7 0 1964 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.575 0.414 1.00
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease 1.000 definitive 0.969 7 0 1990 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.518 0.655 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 0.958 6 0 1953 2018
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3
collagen type IV alpha 3 chain 0.572 0.586 7.5E-12
Alport Syndrome, Autosomal Recessive
disease 1.000 1.000 6 0 1992 2015
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.502 0.724 1.00
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
disease 1.000 0.971 6 0 1996 2017
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
glucuronidase beta 0.619 0.655 1.2E-07
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII
disease 1.000 1.000 6 0 1977 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease 1.000 0.921 6 0 1993 2018
Entrez Id: 4010
Gene Symbol: LMX1B
LMX1B
LIM homeobox transcription factor 1 beta 0.596 0.552 0.78
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome
disease 1.000 1.000 6 0 1998 2017
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
SH2 domain containing 1A 0.570 0.690 0.40
X-Linked Lymphoproliferative Disorder
disease 1.000 0.958 6 0 1998 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.506 0.690 0.92
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 1.000 1.000 6 0 1994 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.506 0.690 0.92
Charcot-Marie-Tooth Disease, Type Ia (disorder)
disease 1.000 0.986 6 0 1992 2016
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
solute carrier family 22 member 5 0.663 0.552 1.5E-15
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
disease 1.000 0.938 6 0 1988 2018
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.467 0.655 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 1.000 definitive 0.969 6 0 1949 2018
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.494 0.724 2.8E-10
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
disease 1.000 1.000 6 0 2004 2018
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.627 0.724 5.2E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
phenotype 1.000 0.946 5 0 1983 2018
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.604 0.690 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.933 5 0 1982 2018
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.550 0.621 6.7E-12
Polyglandular Type I Autoimmune Syndrome
disease 1.000 0.945 5 0 1967 2018
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.451 0.862 1.00
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
disease 1.000 definitive 1.000 5 0 1995 2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.527 0.759 6.7E-12
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
disease 1.000 0.977 5 0 1993 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.417 0.759 1.8E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 1.000 definitive 0.966 5 0 1994 2018
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.457 0.828 7.6E-10
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1
disease 1.000 0.971 5 0 1981 2017
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
potassium voltage-gated channel subfamily J member 10 0.607 0.517 0.12
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
disease 1.000 1.000 5 0 2000 2014
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
paired box 2 0.516 0.690 0.72
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome
disease 1.000 1.000 5 0 1988 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.479 0.655 1.00
CUI: C0003076
Disease: Aniridia
Aniridia
disease 1.000 0.972 5 0 1978 2018