Source: CURATED

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: 200373
Gene Symbol: CFAP221
CFAP221
cilia and flagella associated protein 221 0.805 0.231 8.7E-17
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
cilia and flagella associated protein 221 0.805 0.231 8.7E-17
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1 0.861 0.231 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1 0.861 0.231 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.300 None 1.000 1 0 2020 2020
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0086543
Disease: Cataract
Cataract
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
triokinase and FMN cyclase 0.839 0.192 3.2E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
protein phosphatase 1 regulatory subunit 12A 0.626 0.615 1.00
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group 0.300 None 1.000 1 0 2020 2020
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
protein phosphatase 1 regulatory subunit 12A 0.626 0.615 1.00
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.400 None 1.000 1 2 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease 0.410 None 1.000 1 2 2020 2020
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis
disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.310 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
NAD synthetase 1 0.780 0.231 1.3E-16
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2020 2020
Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
NAD synthetase 1 0.780 0.231 1.3E-16
CUI: C0426706
Disease: Absent kidney
Absent kidney
phenotype 0.300 strong 1.000 1 0 2020 2020