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: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 37 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 11 0.513 0.846 1.1E-25 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 36 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		Q6UB99 ankyrin repeat domain 11 63 0.556 0.808 1.00 0.100 None 0 1
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		P58335 ANTXR cell adhesion molecule 2 Receptor 30 0.568 0.808 8.7E-02 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 1.000 2 1 2012 2015
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.110 None 1.000 1 1 2016 2016
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		P30049 ATP synthase F1 subunit delta Transporter 43 0.674 0.500 7.4E-02 0.100 None 1.000 1 1 2018 2018
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		Q8WXX7 activator of transcription and developmental regulator AUTS2 36 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 3 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 28 0.626 0.538 0.74 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 0 1
Entrez Id: 80152
Gene Symbol: CENPT
CENPT 		Q96BT3 centromere protein T 11 0.821 0.231 5.8E-06 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 24 0.751 0.500 1.00 0.100 None 0 2
Entrez Id: 91949
Gene Symbol: COG7
COG7 		P83436 component of oligomeric golgi complex 7 10 0.686 0.500 2.6E-07 0.100 None 0 2
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		Q9UMD9 collagen type XVII alpha 1 chain 18 0.545 0.769 2.3E-27 0.100 None 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		P12110 collagen type VI alpha 2 chain Receptor 23 0.599 0.692 6.5E-08 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		Q02388 collagen type VII alpha 1 chain Receptor 38 0.545 0.808 2.4E-40 0.100 None 0 2
Entrez Id: 1384
Gene Symbol: CRAT
CRAT 		P43155 carnitine O-acetyltransferase Enzyme 9 0.656 0.577 9.5E-12 0.100 None 1.000 1 2 2020 2020
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 20 0.530 0.692 6.6E-03 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30 		Q7L2E3 DExH-box helicase 30 Enzyme 20 0.722 0.500 1.00 0.100 None 0 1
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		O60610 diaphanous related formin 1 5 0.623 0.654 0.92 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.100 None 0 1
Entrez Id: 2010
Gene Symbol: EMD
EMD 		P50402 emerin 8 0.542 0.731 0.93 0.100 None 0 1