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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.986 33 0 1973 2020
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 strong 0.980 25 0 1981 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.977 23 0 1975 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 None 0.979 20 0 1989 2020
Entrez Id: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease 1.000 None 0.982 19 0 1968 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.565 0.846 0.87
Ornithine carbamoyltransferase deficiency
disease 1.000 definitive 1.000 18 0 1976 2018
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease 1.000 limited 0.987 15 0 1993 2020
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
Autoimmune Lymphoproliferative Syndrome
disease 1.000 strong 1.000 15 0 1978 2018
Entrez Id: 2690
Gene Symbol: GHR
GHR
growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome
disease 1.000 None 0.980 14 0 1987 2020
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 None 0.982 14 0 1953 2020
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease 1.000 None 0.988 14 0 1995 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria
disease 1.000 None 0.967 12 0 2003 2020
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
Hypophosphatemic Rickets, X-Linked Dominant
disease 1.000 strong 0.976 12 0 1987 2020
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1
disease 1.000 definitive 0.986 12 0 1992 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 1.000 12 0 1953 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 definitive 0.985 11 0 1991 2020
Entrez Id: 2645
Gene Symbol: GCK
GCK
glucokinase 0.523 0.808 0.63
Diabetes mellitus autosomal dominant type II (disorder)
disease 1.000 strong 1.000 9 0 1992 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 1.000 definitive 0.990 9 0 1956 2020
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
Autosomal Recessive Polycystic Kidney Disease
disease 1.000 None 1.000 9 0 1975 2019
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 definitive 0.980 9 0 1983 2020
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 1.000 None 0.976 9 0 1997 2019
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
hexosaminidase subunit beta 0.644 0.654 3.5E-10
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease
disease 1.000 strong 0.987 8 0 1989 2020
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 None 0.966 8 0 1970 2019
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.553 0.692 2.4E-47
Muscular dystrophy congenital, merosin negative
disease 1.000 strong 1.000 8 0 1955 2018
Entrez Id: 443
Gene Symbol: ASPA
ASPA
aspartoacylase 0.564 0.731 4.1E-04
CUI: C0206307
Disease: Canavan Disease
Canavan Disease
disease 1.000 strong 0.967 8 0 1990 2020