Source: HPO

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: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		disease 0.720 limited 1.000 0 0 2013 2017
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		phenotype 0.100 None 0 0