Neurodevelopmental disorder
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| COMPLEX NEURODEVELOPMENTAL DISORDER | ANK2 | Causal | ClinGen, GWAS catalog | |||
| CHD2 | Causal | ClinGen, GWAS catalog | — | |||
| CUL3 | Causal | ClinGen, GWAS catalog | ||||
| DYRK1A | Causal | ClinGen, Disgenet | ||||
| EEF1A2 | Causal | ClinGen, GenCC | ||||
| GRIN2B | Causal | — | ClinGen, GenCC | |||
| KCNQ2 | Causal | CTD, ClinGen | ||||
| NR4A2 | Causal | ClinGen, GWAS catalog | ||||
| SCAF4 | Causal | ClinGen, Disgenet | — | |||
| SCN2A | Causal | ClinGen, Disgenet | ||||
| SCN8A | Causal | ClinGen, GWAS catalog | ||||
| SYNGAP1 | Causal | ClinGen, GWAS catalog | ||||
| AGO1 | Unknown | — | ClinGen | |||
| ALDH1B1 | Unknown | — | GenCC | |||
| ARHGAP35 | Unknown | — | GenCC | |||
| ATP6V0A1 | Unknown | — | GenCC | |||
| BAZ2B | Unknown | ClinGen, GWAS catalog | ||||
| BRSK2 | Unknown | CTD, ClinGen | — | |||
| CACNA1I | Unknown | Disgenet | ||||
| CLCN3 | Unknown | GWAS catalog | ||||
| EXOC2 | Unknown | ClinGen, Disgenet | ||||
| EXOC7 | Unknown | ClinGen, Disgenet | ||||
| GABBR2 | Unknown | ClinGen, GWAS catalog | ||||
| GIGYF1 | Unknown | — | GenCC | — | ||
| GNAI1 | Unknown | ClinGen, Disgenet | ||||
| GRIK2 | Unknown | ClinGen, ClinVar | ||||
| GRIN1 | Unknown | ClinGen, GWAS catalog | ||||
| GRIN2A | Unknown | CTD, ClinGen | ||||
| HECW2 | Unknown | ClinGen, ClinVar | ||||
| INTS11 | Unknown | — | GenCC | |||
| KLHL20 | Unknown | ClinGen, GWAS catalog | ||||
| KMT2E | Unknown | ClinGen, Disgenet | ||||
| MEF2C | Unknown | ClinGen, GWAS catalog | ||||
| NBEA | Unknown | CTD, ClinGen | — | |||
| NOVA2 | Unknown | ClinGen, Disgenet | — | |||
| OTUD7A | Unknown | ClinGen, GWAS catalog | ||||
| PIGA | Unknown | ClinGen, Disgenet | ||||
| PTRHD1 | Unknown | — | GenCC | — | ||
| RALGAPA1 | Unknown | — | GenCC | |||
| SATB1 | Unknown | — | ClinGen, GenCC | |||
| SHMT2 | Unknown | — | GenCC | |||
| SLC4A10 | Unknown | ClinGen, GWAS catalog | ||||
| SNF8 | Unknown | — | GenCC | |||
| SPOUT1 | Unknown | — | GenCC | — | ||
| SUPT16H | Unknown | — | GenCC | |||
| TMEM147 | Unknown | — | GenCC | — | ||
| TNRC6B | Unknown | ClinGen | ||||
| ZFHX4 | Unknown | — | GenCC | — | ||
| ZFTRAF1 | Unknown | — | GenCC | — | ||
| ZMIZ1 | Unknown | ClinGen, GWAS catalog | — | |||
| NEURODEVELOPMENTAL DISORDER | ARHGAP35 | Causal | Disgenet | |||
| BAZ2B | Causal | — | GenCC | |||
| BRSK2 | Causal | Disgenet | — | |||
| GIGYF1 | Causal | GWAS catalog | — | |||
| GRIN2A | Causal | GWAS catalog | ||||
| KLHL20 | Causal | — | GenCC | |||
| NR4A2 | Causal | — | GenCC | |||
| SATB1 | Causal | Disgenet | ||||
| ZFHX4 | Causal | GWAS catalog | — | |||
| ANK2 | Unknown | GWAS catalog | ||||
| ZFTRAF1 | Unknown | GWAS catalog | — | |||
| NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY | SNF8 | Causal | ClinVar, Disgenet, GenCC, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES | SHMT2 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA | EXOC2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | KMT2E | Causal | — | Disgenet | ||
| SCAF4 | Causal | — | Disgenet | — | ||
| TNRC6B | Causal | — | Disgenet | |||
| NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES | ZMIZ1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM | SUPT16H | Causal | ClinVar, Disgenet, GenCC, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES | PTRHD1 | Causal | — | ClinVar, Disgenet, HPO | — | |
| NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY | ATP6V0A1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS | PIGA | Causal | — | ClinVar, HPO | ||
| NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY | TMEM147 | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES | CLCN3 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES | SLC4A10 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY | ZFTRAF1 | Causal | — | Disgenet | — | |
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES | OTUD7A | Causal | — | ClinVar, Disgenet, HPO | ||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES | KMT2E | Unknown | — | Disgenet | ||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES | GNAI1 | Causal | ClinVar, Disgenet, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | RALGAPA1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE | HECW2 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE | MEF2C | Causal | CTD, ClinVar, Disgenet, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | GRIK2 | Causal | ClinVar, Disgenet, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | AGO1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES | INTS11 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES | CUL3 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES | NOVA2 | Causal | ClinVar, Disgenet, HPO | — | ||
| NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY | NBEA | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT | GRIN1 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | GRIN1 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND BRAIN ABNORMALITIES | SPOUT1 | Causal | — | ClinVar | — | |
| NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | GABBR2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES | CLCN3 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY | EXOC7 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES | CACNA1I | Causal | ClinVar, Disgenet, HPO | |||
| NEURODEVELOPMENTAL DISORDER-SLIT-LIKE LATERAL VENTRICLES-INTELLECTUAL DISABILITY SYNDROME | SLC4A10 | Unknown | Disgenet, Orphanet | |||
| NEURODEVELOPMENTAL DISORDERS | AGO1 | Unknown | — | Disgenet | ||
| ANK2 | Unknown | CTD, Disgenet | ||||
| ARHGAP35 | Unknown | — | Disgenet | |||
| BAZ2B | Unknown | Disgenet | ||||
| BRSK2 | Unknown | Disgenet | — | |||
| CHD2 | Unknown | CTD, Disgenet | — | |||
| CLCN3 | Unknown | — | Disgenet | |||
| CUL3 | Unknown | CTD, Disgenet | ||||
| DYRK1A | Unknown | CTD, Disgenet | ||||
| EEF1A2 | Unknown | CTD, Disgenet | ||||
| GIGYF1 | Unknown | — | Disgenet | — | ||
| GNAI1 | Unknown | — | Disgenet | |||
| GRIN1 | Unknown | — | Disgenet | |||
| GRIN2A | Unknown | Disgenet | ||||
| GRIN2B | Unknown | CTD, Disgenet | ||||
| KCNQ2 | Unknown | CTD, Disgenet | ||||
| KLHL20 | Unknown | — | Disgenet | |||
| KMT2E | Unknown | CTD, Disgenet | ||||
| MEF2C | Unknown | CTD, Disgenet | ||||
| NBEA | Unknown | — | Disgenet | — | ||
| NR4A2 | Unknown | — | Disgenet | |||
| OTUD7A | Unknown | — | Disgenet | |||
| SATB1 | Unknown | Disgenet | ||||
| SCAF4 | Unknown | Disgenet | — | |||
| SCN2A | Unknown | CTD, Disgenet | ||||
| SCN8A | Unknown | CTD, Disgenet | ||||
| SHMT2 | Unknown | — | Disgenet | |||
| SPOUT1 | Unknown | — | Disgenet | — | ||
| SUPT16H | Unknown | Disgenet | ||||
| SYNGAP1 | Unknown | CTD, Disgenet | ||||
| TNRC6B | Unknown | CTD, Disgenet | ||||
| ZFHX4 | Unknown | — | Disgenet | — | ||
| ZFTRAF1 | Unknown | Disgenet | — | |||
| ZMIZ1 | Unknown | — | Disgenet | — |