Source: ALL

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: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		disease 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		disease 0.100 None 0 0
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1 		aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0221373
Disease: Claw hand
Claw hand 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0266036
Disease: Macrodontia
Macrodontia 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype 0.100 None 0 0
Entrez Id: 1489
Gene Symbol: CTF1
CTF1 		cardiotrophin 1 0.636 0.423 4.2E-02
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		disease 0.200 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1 		aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		disease 0.100 None 0 0
Entrez Id: 80341
Gene Symbol: BPIFB2
BPIFB2 		BPI fold containing family B member 2 0.861 0.385 4.7E-12
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.300 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1 		tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 0 0
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2 		beta-1,3-N-acetylgalactosaminyltransferase 2 0.578 0.577 2.8E-07
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0