H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 12 1 1997 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 12 1 1997 2015
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
disease Neoplastic Process 87 9 0.050 None 1.000 5 1 2012 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.040 None 1.000 4 1 2016 2020
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
phenotype Finding 6 14 0.300 None 1.000 3 2 2012 2013
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma
disease Neoplastic Process 2 1 0.010 None 1.000 1 1 2016 2016
CUI: C1334008
Disease: High Grade Sarcoma
High Grade Sarcoma
disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
Childhood Pleomorphic Xanthoastrocytoma
disease Neoplastic Process 42 7 0.010 None 1.000 1 2018 2018
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma
disease Neoplastic Process 24 3 0.010 None 1.000 1 2018 2018
CUI: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0 1
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0 1
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0 1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0 1
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0 1
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype Finding 30 46 0.100 None 0 1
Periventricular gray matter heterotopia
disease Disease or Syndrome 4 3 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0 1
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge
phenotype Finding 39 2 0.100 None 0 1