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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 —
All938 Causal190 Unknown850