Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES	620292 C5830365 MONDO:0859531	AGO1	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES	619908 C5676998 MONDO:0859256	TIAM1	Causal	28191890 29725052 35240055	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES	620502 C5882689 MONDO:0957779	GABBR1	Causal	36103875	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES	618917 C5394502 MONDO:0030060	GRIA2	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER	620782 C5935603 MONDO:0968945	CAPRIN1	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES	MONDO:0032942	SPOP	Causal	24796539 32109420	ClinGen ClinVar HPO
	MONDO:0032942	LMBRD2	Unknown	32820033	GWAS catalog
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE	C4310745 617051 OMIM:617051	HYLS1	Unknown	—	Disgenet
	C4310745 617051 OMIM:617051	PUS3	Unknown	—	CTD Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES	620445 C5830624 MONDO:0957531	TTI1	Causal	26539891 27435318 30315573 36724785	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES	620317 C5830413 MONDO:0957218	WARS1	Causal	35815345	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES	618492 C5193123 MONDO:0032779	DYNC1I2	Causal	31079899	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ABSENT SPEECH, AND HYPOTONIA	621060 MONDO:0976126	FLVCR1	Unknown	—	ClinVar HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES	618622 C5231431 MONDO:0032838	SMPD4	Causal	31495489	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES	617709 C4540188 MONDO:0060577	SARS1	Unknown	34570399 28236339	ClinGen ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	617913 C4693567 MONDO:0060664	GEMIN4	Causal	25558065 30237576 27878435 35861185	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT	620066 C5774225 MONDO:0859293	DOHH	Causal	35858628	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY	618730 C5231480 MONDO:0032887	TMX2	Causal	31586943 31735293	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY	617862 C4693390 MONDO:0060640	TRAPPC6B	Causal	28397838 28626029 31687267 37713627	ClinGen ClinVar Disgenet HPO
	617862 C4693390 MONDO:0060640	CHD1	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION	618367 MONDO:0032705	MTHFS	Causal	30031689 31844630	ClinVar GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE	620038 C5774216 MONDO:0859287	PSMB1	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES	617481 MONDO:0060490	PRUNE1	Causal	—	ClinVar GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES	619876 C5676986 MONDO:0859250	CPSF3	Unknown	35121750	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES	619091 C5436783 MONDO:0100348	NARS1	Causal	32738225	ClinGen ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES	619092 C5436788 MONDO:0030837	NARS1	Causal	32738225 32788587	ClinGen ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES	620023 C5774208 MONDO:0859282	CHKA	Causal	35202461	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY	619076 C5436747 MONDO:0033662	EXOC8	Causal	27626380 32103185 35460391	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	617802 C4540493 MONDO:0060621	VARS1	Causal	25035493 26539891 29137650 29691655 30275004 30755602 30755616 32022899 35583550	ClinGen ClinVar Disgenet HPO
	617802 C4540493 MONDO:0060621	VARS2	Unknown	—	Disgenet
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS	619685 C5562052 MONDO:0859216	VPS50	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY	620027 C5774211 MONDO:0859285	TRAPPC10	Causal	30167849 35298461	ClinVar Disgenet HPO Orphanet
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS	617523 C4479613 MONDO:0056797	ARHGEF2	Causal	28453519 29421787	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, AND FACIAL DYSMORPHISM	617931	PUM1	Unknown	—	HPO
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM	620719 MONDO:0958231	PUM1	Unknown	—	GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES	620428 C5830596 MONDO:0957386	INTS11	Causal	37054711 37980560	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES	619470 C5561954 MONDO:0859176	TMEM222	Causal	33824500	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION	620515 C5882695 MONDO:0957791	SNAPC4	Causal	36965478	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865 C4693405 MONDO:0060642	ZSWIM6	Causal	28433741 29198722	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	616158 C4015357 OMIM:616158	PURA	Unknown	—	CTD Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES	619833 C5676965 MONDO:0859236	NRCAM	Causal	30763456 35108495	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES	618709 C5231470 MONDO:0032877	DLL1	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART	616975 C4310772 MONDO:0014857 OMIM:616975	RERE	Causal	27087320 29330883 30558068 33772547 36053530 38018232	CTD ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES	619239 C5543225 MONDO:0030994	CUL3	Causal	27824329 31696658 33097317 32341456	ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES	618859 C5394311 MONDO:0030024	NOVA2	Causal	31231135 32197073	ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY	619157 C5436914 MONDO:0030930	NBEA	Causal	28554332 30269351	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT	614254 C3280282 MONDO:0013655 OMIM:614254	GRIN1	Causal	23934111 27164704 35393335 25864721 26933583 28228639 28389307 29194067 29365063 30355546 31176596 33062288 33403508 34227748 34413877 34884460	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	617820 C4693325 MONDO:0060629	GRIN1	Causal	34611970 26350515 27164704 28051072	CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY	616917 C4310794 OMIM:616917	PIGG	Unknown	—	CTD Disgenet HPO
	616917 C4310794 OMIM:616917	SPTBN1	Unknown	—	Disgenet

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Neurodevelopmental disorder