Source: INFERRED

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: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease 1.000 None 0.989 18 239 1997 2020
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease 0.180 None 1.000 0 1 1989 2020
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.140 None 1.000 0 0 2011 2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.120 None 1.000 0 0 2013 2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 1 1 2011 2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		group 0.110 None 1.000 0 0 2017 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 25 1 1988 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 25 2 1988 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 25 1 1988 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 25 8 1988 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 25 9 1988 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype 0.100 None 1.000 3 2 2018 2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease 0.100 None 0 1
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype 0.100 None 0 0