Source: CLINVAR

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: 57178
Gene Symbol: ZMIZ1
ZMIZ1
zinc finger MIZ-type containing 1 0.588 0.615 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.400 None 1.000 1 1 2015 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 1.000 3 1 2007 2007
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
lysine acetyltransferase 6A 0.560 0.769 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 1.000 1 3 2016 2016
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 2
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
AT-rich interaction domain 1A 0.455 0.846 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.588 0.731 0.99
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
glutamine rich 1 0.716 0.423 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 1