Neurodevelopmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
NEURODEVELOPMENTAL DISORDER
MONDO:0700092
SLC12A9 Unknown
38334070
Orphanet
SLC35F1 Unknown
33821533
GWAS catalog
SMARCA1 Unknown — GenCC
SMARCA5 Unknown
33980485
CTD
SMARCD1 Unknown
30879640
GWAS catalog
SNX27 Unknown
21300787 23524343 25894286 31721175
GWAS catalog
SOX12 Unknown — GenCC
SOX8 Unknown — GenCC
SP9 Unknown
38288683
CTD
SPAST Unknown — GenCC
SPOP Unknown
32109420
Orphanet
SPTBN5 Unknown
28007035 32732226 35782384
GWAS catalog
STX1A Unknown — GenCC
SYNCRIP Unknown
23020937 27479843 30504930 34157790
Disgenet
TAF1C Unknown
32779182
GWAS catalog
TAOK2 Unknown
28385331 29467497 39737487
GWAS catalog
TCF7L2 Unknown
33057194 34003604
GWAS catalog
TCP1 Unknown — GenCC
TMEM135 Unknown
21937992
CTD
TMEM161B Unknown — GenCC
TMPRSS9 Unknown
31943016
Disgenet
TMX2 Unknown
31586943 31735293
CTD
TOP2B Unknown — GenCC
TRA2B Unknown
36549593
GWAS catalog
TRPC5 Unknown
36323681
GWAS catalog
UBR5 Unknown — GenCC
UPF1 Unknown — GenCC
VCP Unknown — GenCC
WASF1 Unknown
34356165 39774290
GWAS catalog
WDR5 Unknown
36408368
GWAS catalog
ZBTB40 Unknown
21937992
Disgenet
ZC2HC1C Unknown — GenCC
ZCCHC8 Unknown
21937992
GWAS catalog
ZFTRAF1 Unknown
38641995
GWAS catalog
ZNF407 Unknown — GenCC
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
618890C5394423MONDO:0030046
PTPN23 Causal
246124 25558065 27848944 28454995 29090338 29899372 31395947
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
620784C5935605MONDO:0968947
SNF8 Causal
38423010
ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
618707C5231469MONDO:0032876
WASF1 Causal
29961568
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES
620270C5830319MONDO:0859519
UBE3C Causal
36401616
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH ACHALASIA, POLYNEUROPATHY, AND ALACRIMA
621328
NDC1 Unknown — ClinVar
NEURODEVELOPMENTAL DISORDER WITH ALOPECIA AND BRAIN ABNORMALITIES
MONDO:0033642
ODC1 Causal
30239107 30475435
ClinVar GWAS catalog
NEURODEVELOPMENTAL DISORDER WITH ATAXIA AND BRAIN ABNORMALITIES
621199
PTPMT1 Unknown — ClinVar
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
618569C5231413MONDO:0032816
SVBP Causal
30607023 31363758
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
617807C4540498MONDO:0060624
RAB11B Causal
29106825 31674007 33644862
CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
618718C5231471MONDO:0032878
NTNG2 Causal
31372774 31668703
ClinVar Disgenet GWAS catalog HPO
PAK1 Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL, EAR, AND SKELETAL ABNORMALITIES
621263
FEM1B Unknown — ClinVar
NEURODEVELOPMENTAL DISORDER WITH BRAIN ABNORMALITIES, POOR GROWTH, AND DYSMORPHIC FACIES
615286OMIM:615286
ADAT3 Unknown — CTD HPO
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
618731C5231481MONDO:0032888
DHX37 Causal
26539891 31256877
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
618590C5231419
PIGU Unknown — Disgenet HPO