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: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.586 0.483 1.00
CUI: C2931029
Disease: Nevi flammei, familial multiple
Nevi flammei, familial multiple
disease 0.500 0 0
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
epithelial cell adhesion molecule 0.499 0.690 9.7E-08
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.519 0.759 2.6E-16
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
phenotype 0.500 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.713 0.345 2.5E-12
CUI: C0268556
Disease: Saccharopinuria
Saccharopinuria
disease 0.500 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.557 0.517 0.68
CUI: C1300268
Disease: Brachydactyly syndrome type C
Brachydactyly syndrome type C
disease 0.500 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D
SEC24 homolog D, COPII coat complex component 0.720 0.379 6.4E-08
CUI: C1862178
Disease: Cole Carpenter syndrome
Cole Carpenter syndrome
disease 0.500 0 0
Entrez Id: 54345
Gene Symbol: SOX18
SOX18
SRY-box 18 0.624 0.586 0.15
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
disease 0.500 0 0
Entrez Id: 152926
Gene Symbol: PPM1K
PPM1K
protein phosphatase, Mg2+/Mn2+ dependent 1K 0.785 0.241 1.8E-04
Intermediate Maple Syrup Urine Disease
disease 0.500 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
Walker-Warburg congenital muscular dystrophy
disease 0.500 0 0
Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
epoxide hydrolase 1 0.510 0.759 3.7E-09
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial
disease 0.500 0 0
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
pyridoxal phosphate binding protein 0.773 0.207
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT
disease 0.500 0 0
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
MAF bZIP transcription factor B 0.636 0.621 0.91
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
disease 0.500 0 0
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
spectrin repeat containing nuclear envelope protein 2 0.676 0.414 2.9E-23
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease 0.500 0 0
Entrez Id: 4173
Gene Symbol: MCM4
MCM4
minichromosome maintenance complex component 4 0.713 0.448 2.6E-03
Natural Killer Cell Deficiency, Familial Isolated
disease 0.500 0 0
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
gephyrin 0.663 0.379 1.00
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia
disease 0.500 0 0
Entrez Id: 10021
Gene Symbol: HCN4
HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.690 0.172 1.00
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 0.500 strong 0 0
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.611 0.345 1.00
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
disease 0.500 0 0
Entrez Id: 10290
Gene Symbol: SPEG
SPEG
SPEG complex locus 0.707 0.276 0.83
Autosomal Recessive Centronuclear Myopathy
disease 0.500 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.512 0.690 1.00
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly
disease 0.500 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
nephrocystin 1 0.619 0.552 1.7E-17
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder)
disease 0.500 0 0
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
ATPase phospholipid transporting 8B1 0.630 0.552 2.1E-09
Familial intrahepatic cholestasis of pregnancy
disease 0.500 0 0
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.735 0.241 1.3E-16
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED
disease 0.500 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.494 0.862
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
disease 0.500 0 0
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.648 0.345 4.8E-13
Adult-Onset Vitelliform Macular Dystrophy
disease 0.500 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.467 0.828 1.00
Malignant neoplasm of urinary bladder
disease 0.500 0 0