Phenotype: Overgrowth (HP:0001548)
Associated genes and diseases:
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
gene_symbol: PIK3CA
disease_id: OMIM:612918
disease_name: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: PIK3CA
disease_id: OMIM:602501
disease_name: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:314662
disease_name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
gene_symbol: RTL1
disease_id: ORPHA:254534
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:254534
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:254534
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: PTEN
disease_id: OMIM:605309
disease_name: MACROCEPHALY/AUTISM SYNDROME
gene_symbol: RNF135
disease_id: ORPHA:137634
disease_name: Overgrowth-macrocephaly-facial dysmorphism syndrome
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance syndrome
gene_symbol: DICER1
disease_id: OMIM:618272
disease_name: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: NFIX
disease_id: OMIM:614753
disease_name: SOTOS SYNDROME 2
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: PIK3R2
disease_id: OMIM:603387
disease_name: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: HSPG2
disease_id: OMIM:224410
disease_name: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
gene_symbol: FAM20A
disease_id: OMIM:204690
disease_name: AMELOGENESIS IMPERFECTA, TYPE IG
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: IGF2
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: H19
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: CAMK2A
disease_id: OMIM:617798
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
gene_symbol: ARHGEF9
disease_id: OMIM:300607
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: FBLN5
disease_id: OMIM:219100
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
gene_symbol: SPIN4
disease_id: OMIM:301114
disease_name: LUI-JEE-BARON SYNDROME
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: GPR101
disease_id: OMIM:300942
disease_name: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM