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: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.420 strong 1.000 0 0 2015 2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.130 None 1.000 0 0 2007 2017
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 2015 2017
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1847363
Disease: Aplasia/Hypoplasia of the ribs
Aplasia/Hypoplasia of the ribs 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0548883
Disease: Low frustration tolerance
Low frustration tolerance 		phenotype 0.100 None 0 0