Source: ALL

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: 7486
Gene Symbol: WRN
WRN
Werner syndrome RecQ like helicase 0.586 0.545 3.1E-33
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease 1.000 0.915 140 32 1993 2017
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
solute carrier family 39 member 4 0.517 0.652 3.4E-04
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica
disease 1.000 1.000 19 9 2000 2014
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
runt related transcription factor 2 0.621 0.490 0.96
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 1.000 0.975 96 15 1993 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.690 0.469 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.957 412 375 1973 2018
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
myosin VB 0.552 0.642 1.9E-21
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
disease 1.000 1.000 16 8 2008 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.586 0.552 8.9E-42
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
disease 1.000 0.961 95 35 1993 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.552 0.534 1.00
Spinocerebellar Ataxia Type 6 (disorder)
disease 1.000 0.979 64 6 1997 2016
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
forkhead box L2 0.448 0.561 0.88
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
disease 1.000 1.000 42 56 1993 2016
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.552 0.633 4.8E-08
CUI: C0086648
Disease: MPS III B
MPS III B
disease 1.000 0.963 40 44 1982 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.621 0.598 7.8E-47
Muscular dystrophy congenital, merosin negative
disease 1.000 0.962 45 51 1955 2017
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.621 0.537 1.00
Polycystic Kidney, Autosomal Dominant
disease 1.000 definitive 0.972 323 64 1989 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.759 0.435 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 1.000 definitive 0.974 140 49 1996 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.690 0.506 0.92
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 1.000 1.000 48 9 1994 2016
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.793 0.535 0.23
Charcot-Marie-Tooth Disease, Type Ib
disease 1.000 1.000 91 43 1992 2018
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
ATP binding cassette subfamily A member 12 0.517 0.648 1.3E-14
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
disease 1.000 1.000 26 7 2005 2018
Entrez Id: 2184
Gene Symbol: FAH
FAH
fumarylacetoacetate hydrolase 0.483 0.624 6.8E-17
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 1.000 0.975 75 39 1990 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.759 0.417 1.8E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease 1.000 1.000 30 1 1996 2015
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.690 0.604 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.933 206 57 1982 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.724 0.477 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 0.969 824 350 1982 2018
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
spectrin beta, non-erythrocytic 2 0.483 0.648 3.0E-05
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
disease 1.000 1.000 16 3 2006 2018
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV, pyrin innate immunity regulator 0.724 0.494 1.0E-14
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
disease 1.000 0.954 346 55 1993 2018
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
phosphate regulating endopeptidase homolog X-linked 0.690 0.609 1.00
Hypophosphatemic Rickets, X-Linked Dominant
disease 1.000 0.977 63 44 1977 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.586 0.521 1.8E-12
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
disease 1.000 1.000 19 12 2000 2017
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
glypican 3 0.724 0.502 1.00
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
disease 1.000 0.971 44 8 1996 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.759 0.554 1.4E-21
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease 1.000 0.983 206 120 1993 2018