Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT	152950 OMIM:152950	KIF11	Unknown	—	CTD HPO
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR INTELLECTUAL DISABILITY	MONDO:0007918	KIF11	Causal	15930898 22284827	ClinGen ClinVar GWAS catalog
MICROCEPHALY WITH OR WITHOUT SHORT STATURE	MONDO:0100346	CEP152	Unknown	20598275 21131973 22775483 35259752	ClinGen Disgenet
MICROCEPHALY, AMISH TYPE	607196	SLC25A19	Unknown	—	HPO
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM	618284 C4748984 MONDO:0032656	KCNA4	Unknown	—	ClinVar Disgenet GenCC HPO
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	616834 OMIM:616834	MSMO1	Unknown	—	CTD HPO
MICROCEPHALY, CONGENITAL CATARACT, PSORIASIFORM DERMATITIS SYNDROME	C5567510	MSMO1	Unknown	—	Disgenet
MICROCEPHALY, CORPUS CALLOSUM HYPOPLASIA, INTELLECTUAL DISABILITY, FACIAL DYSMORPHISM SYNDROME	C4225352	PPP2R1A	Unknown	—	Disgenet
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME	618891 C5394425 MONDO:0030047	CARS1	Causal	30824121	ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY, FACIAL DYSMORPHISM, OCULAR ANOMALIES, MULTIPLE CONGENITAL ANOMALIES SYNDROME	C5681443	ADAMTSL1	Unknown	—	Disgenet
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142 C4748348 MONDO:0020647	CTU2	Causal	31301155	ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS	618346 C5193042 MONDO:0032690	WDR4	Causal	26416026 28617965 29597095 30079490	ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2	618097 C4748176 MONDO:0020628	TOP3A	Causal	—	ClinVar Disgenet GenCC HPO
MICROCEPHALY, INTELLECTUAL DISABILITY, SENSORINEURAL HEARING LOSS, EPILEPSY, ABNORMAL MUSCLE TONE SYNDROME	C4225276	AFG2A	Unknown	—	Disgenet
MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY		NBN	Causal	—	ClinVar
MICROCEPHALY, POLYMICROGYRIA, CORPUS CALLOSUM AGENESIS SYNDROME	C4750772	EOMES	Unknown	—	Disgenet
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	C3150921 613668 OMIM:613668	EEFSEC	Unknown	—	Disgenet
	C3150921 613668 OMIM:613668	MED17	Unknown	—	CTD Disgenet HPO
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1	C1855081 MESH:C565384	ANGPT2	Unknown	—	Disgenet
		ASPM	Unknown	—	Disgenet
		CPAP	Unknown	—	Disgenet
		MCPH1	Unknown	—	CTD Disgenet
		RNF17	Unknown	—	Disgenet
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2	MESH:C565794	WDR62	Unknown	—	CTD
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3	C1858108 MESH:C565746	CDK5RAP2	Unknown	—	CTD Disgenet
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4	MESH:C565792	KNL1	Unknown	—	CTD
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5	C1837501 MESH:C563871	ASPM	Unknown	—	CTD Disgenet
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5	C1837501 MESH:C563871	MFSD8	Unknown	—	Disgenet
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6	C1842109 MESH:C564247	CPAP	Unknown	—	CTD Disgenet
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6	C1842109 MESH:C564247	RNF17	Unknown	—	Disgenet
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7	C2675187 MESH:C567198	STIL	Unknown	—	CTD Disgenet
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	C4014239 615760 OMIM:615760	MYH15	Unknown	—	Disgenet
	C4014239 615760 OMIM:615760	QARS1	Unknown	—	CTD Disgenet HPO
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY	C3150667 613402 MONDO:0013254 OMIM:613402	NUSAP1	Causal	—	Disgenet
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY	C3150667 613402 MONDO:0013254 OMIM:613402	PNKP	Causal	15385968 20118933 22508754 23224214 29243230	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1	616033 C4014997 MONDO:0000208 OMIM:616033	TRMT10A	Causal	24204302 25053765 26526202 26535115	CTD ClinVar Disgenet GenCC HPO
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2	616817 C4225195 MONDO:0014785 OMIM:616817	PPP1R15B	Unknown	—	CTD ClinVar Disgenet GenCC HPO
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES	617604 C4539873 MONDO:0060533	DONSON	Causal	—	ClinVar Disgenet GenCC HPO
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	614833 C3553831 OMIM:614833	RTTN	Unknown	—	CTD Disgenet HPO
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES	C4225499	RTTN	Causal	—	Disgenet
MICROCEPHALY, SHORT STATURE, INTELLECTUAL DISABILITY, FACIAL DYSMORPHISM SYNDROME	C4749647	QARS1	Unknown	—	Disgenet
MICROCEPHALY, THIN CORPUS CALLOSUM, INTELLECTUAL DISABILITY SYNDROME	C4749429	TAF2	Unknown	—	Disgenet
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME	294016 614261 C3280296 MONDO:0013659 OMIM:614261	STAMBP	Causal	23542699 27531570	CTD ClinVar Disgenet HPO Orphanet
MICROCEPHALY-COMPLEX MOTOR AND SENSORY AXONAL NEUROPATHY SYNDROME	423894 MONDO:0018507	VRK1	Unknown	24126608	GWAS catalog Orphanet
MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME	488168 MONDO:0014793	MSMO1	Causal	21285510 23042573 24144731 27513193 28673550 33161406 37195326 616834	ClinVar GWAS catalog Orphanet
MICROCEPHALY-CORPUS CALLOSUM AND CEREBELLAR VERMIS HYPOPLASIA-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROM	500159	RAC1	Unknown	28886345	Orphanet
MICROCEPHALY-CORPUS CALLOSUM HYPOPLASIA-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME	457284	PPP2R1A	Unknown	26168268	Orphanet
MICROCEPHALY-DIGITAL ANOMALIES SYNDROME	C0796063	RBBP8	Unknown	—	Disgenet
MICROCEPHALY-FACIAL DYSMORPHISM-OCULAR ANOMALIES-MULTIPLE CONGENITAL ANOMALIES SYNDROME	521445	ADAMTSL1	Unknown	28722276	Orphanet
MICROCEPHALY-HEARING LOSS-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME	662179	SPOP	Unknown	32109420	Orphanet

«‹1 23›»

Microcephaly