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: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0231835
Disease: Tachypnea
Tachypnea
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
Elongated superior cerebellar peduncle
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0003578
Disease: Apnea
Apnea
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1837731
Disease: Overfolded helix
Overfolded helix
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
Aplasia/Hypoplasia of the corpus callosum
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1969532
Disease: Rhizomelic arm shortening
Rhizomelic arm shortening
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys
phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 None 0 0