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: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.410 strong 1.000 0 0 2019 2019
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.410 strong 1.000 0 0 2019 2019
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		disease 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		disease 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 0.644 0.615 1.00
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		disease 0.100 None 0 0