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: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 51322
Gene Symbol: WAC
WAC
WW domain containing adaptor with coiled-coil 0.686 0.615 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 7
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 2