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: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.431 0.793 0.14
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
disease 0.700 0 2
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1
Zic family member 1 0.557 0.552 0.94
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
disease 0.600 0 0
Entrez Id: 10699
Gene Symbol: CORIN
CORIN
corin, serine peptidase 0.773 0.207 9.1E-33
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
phenotype 0.600 0 0
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
HNF1 homeobox A 0.515 0.621 0.96
Conventional (Clear Cell) Renal Cell Carcinoma
disease 0.600 0 1
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.550 0.621 2.1E-10
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.600 limited 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box 1 0.479 0.724 0.83
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch
disease 0.600 0 1
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.588 0.379 0.14
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus
disease 0.600 0 0
Entrez Id: 91949
Gene Symbol: COG7
COG7
component of oligomeric golgi complex 7 0.815 0.207 1.8E-07
Congenital disorder of glycosylation type 2E
disease 0.600 0 1
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.602 0.621 2.6E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.600 0 1
Entrez Id: 56916
Gene Symbol: SMARCAD1
SMARCAD1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 0.752 0.241 1.00
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of
phenotype 0.600 0 0
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1
Zic family member 1 0.557 0.552 0.94
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease 0.600 0 0
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
cytochrome P450 family 7 subfamily B member 1 0.604 0.517 3.2E-06
Bile Acid Synthesis Defect, Congenital, 3
disease 0.600 0 1
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.624 0.103 9.4E-09
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
disease 0.600 0 0
Entrez Id: 6342
Gene Symbol: SCP2
SCP2
sterol carrier protein 2 0.690 0.310 8.7E-07
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
disease 0.600 0 1
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
FRAS1 related extracellular matrix 1 0.619 0.414 6.0E-50
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease 0.600 0 0
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
tRNA 0.815 0.276
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE
disease 0.600 0 0
Entrez Id: 93166
Gene Symbol: PRDM6
PRDM6
PR/SET domain 6 0.752 0.276 0.88
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease 0.600 0 0
Entrez Id: 79633
Gene Symbol: FAT4
FAT4
FAT atypical cadherin 4 0.572 0.724 1.00
Hennekam lymphangiectasia lymphedema syndrome
disease 0.500 0 0
Entrez Id: 7200
Gene Symbol: TRH
TRH
thyrotropin releasing hormone 0.547 0.621 4.2E-03
THYROTROPIN-RELEASING HORMONE DEFICIENCY
disease 0.500 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.713 0.345 2.5E-12
Saccharopine dehydrogenase deficiency
disease 0.500 0 0
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11
NADH:ubiquinone oxidoreductase subunit A11 0.667 0.379 1.5E-02
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
disease 0.500 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.645 0.345 5.1E-07
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
disease 0.500 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.713 0.345 2.5E-12
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
disease 0.500 0 0
Entrez Id: 1355
Gene Symbol: COX15
COX15
COX15, cytochrome c oxidase assembly homolog 0.630 0.448 2.5E-13
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
disease 0.500 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.573 0.621 1.1E-20
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1
disease 0.500 0 0