Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated genes and diseases:
gene_symbol: NPHS1
disease_id: ORPHA:839
disease_name: Congenital nephrotic syndrome, Finnish type
Finnish congenital nephrosis
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: PNKP
disease_id: OMIM:616267
disease_name: ATAXIA-OCULOMOTOR APRAXIA 4
gene_symbol: AFP
disease_id: OMIM:615970
disease_name: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: PIK3R5
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: PIK3R5
disease_id: OMIM:615217
disease_name: ATAXIA-OCULOMOTOR APRAXIA 3
gene_symbol: SETX
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
gene_symbol: PEX6
disease_id: ORPHA:95433
disease_name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia type 3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD
SCAR3
gene_symbol: EARS2
disease_id: OMIM:614924
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
gene_symbol: THPO
disease_id: OMIM:620481
disease_name: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
gene_symbol: MET
disease_id: ORPHA:33402
disease_name: Pediatric hepatocellular carcinoma
Childhood-onset HCC
Childhood-onset hepatocellular carcinoma
Pediatric HCC
gene_symbol: CTNNB1
disease_id: ORPHA:33402
disease_name: Pediatric hepatocellular carcinoma
Childhood-onset HCC
Childhood-onset hepatocellular carcinoma
Pediatric HCC
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: MAD2L2
disease_id: OMIM:617243
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP V
gene_symbol: NR1H4
disease_id: OMIM:617049
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: BCL10
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: FGFR3
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: KIT
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: STK11
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR