Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7038
Gene Symbol: TG
TG 		P01266 thyroglobulin Enzyme modulator 6 0.480 0.808 2.9E-59 0.400 None 1.000 0 1 1986 2020
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 60 0.420 0.885 0.68 0.130 None 1.000 0 1 2010 2015
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		P42224 signal transducer and activator of transcription 1 Nucleic acid binding 29 0.399 0.885 1.00 0.110 None 1.000 0 1 2012 2012
Entrez Id: 5979
Gene Symbol: RET
RET 		P07949 ret proto-oncogene Kinase 36 0.392 0.885 1.00 0.110 None 1.000 0 1 2004 2004
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.110 None 1.000 0 1 2008 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 50 0.457 0.846 2.1E-09 0.100 None 1.000 3 1 2010 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		Q8WYB5 lysine acetyltransferase 6B Enzyme 26 0.525 0.731 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8626
Gene Symbol: TP63
TP63 		Q9H3D4 tumor protein p63 Transcription factor 18 0.362 0.769 1.00 0.100 None 1.000 1 1 2010 2010
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		Q16719 kynureninase Enzyme 20 0.617 0.692 4.2E-18 0.100 None 1.000 1 2 2017 2017
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 51 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 1.000 0 1 2012 2012
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		P02462 collagen type IV alpha 1 chain 25 0.484 0.731 1.00 0.100 None 0 1
Entrez Id: 79053
Gene Symbol: ALG8
ALG8 		Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 19 0.659 0.577 1.2E-08 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.100 None 0 2
Entrez Id: 148738
Gene Symbol: HJV
HJV 		Q6ZVN8 hemojuvelin BMP co-receptor 9 0.621 0.654 4.2E-03 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 31 0.599 0.577 1.00 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 39 0.561 0.808 1.00 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 0 1
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		O95255 ATP binding cassette subfamily C member 6 Transporter 30 0.540 0.654 5.6E-35 0.100 None 0 2
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		Q15046 lysyl-tRNA synthetase 1 Enzyme 12 0.636 0.577 4.2E-09 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1 		O75352 mannose-P-dolichol utilization defect 1 16 0.682 0.500 1.0E-05 0.100 None 0 1