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: 9526
Gene Symbol: MPDU1
MPDU1
mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 4 2010 2010
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
mannosidase alpha class 1B member 1 0.606 0.577 1.2E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
nucleus accumbens associated 1 0.610 0.577 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
ALG8 alpha-1,3-glucosyltransferase 0.659 0.577 1.2E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 5 2 2014 2017
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
phosphodiesterase 10A 0.619 0.615 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
hook microtubule tethering protein 2 0.659 0.654 4.6E-18
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1