Phenotype: Abnormality of alkaline phosphatase level (HP:0004379)
Associated genes and diseases:
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TET2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: CBL
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: RUNX1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: IARS1
disease_id: OMIM:617093
disease_name: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
gene_symbol: LRRK1
disease_id: OMIM:615198
disease_name: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: TCIRG1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: PIGC
disease_id: OMIM:617816
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
gene_symbol: PKHD1
disease_id: ORPHA:53035
disease_name: Caroli disease
gene_symbol: CYP7B1
disease_id: ORPHA:79302
disease_name: Congenital bile acid synthesis defect type 3
BASD3
Oxysterol 7-alpha-hydroxylase deficiency
gene_symbol: CYP7B1
disease_id: OMIM:613812
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
gene_symbol: TP53
disease_id: ORPHA:668
disease_name: Osteosarcoma
Osteogenic sarcoma
gene_symbol: RB1
disease_id: ORPHA:668
disease_name: Osteosarcoma
Osteogenic sarcoma
gene_symbol: CHEK2
disease_id: ORPHA:668
disease_name: Osteosarcoma
Osteogenic sarcoma
gene_symbol: AKR1D1
disease_id: ORPHA:79303
disease_name: Congenital bile acid synthesis defect type 2
BASD2
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
gene_symbol: AKR1D1
disease_id: OMIM:235555
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: PTH1R
disease_id: ORPHA:33067
disease_name: Metaphyseal chondrodysplasia, Jansen type
gene_symbol: PTH1R
disease_id: OMIM:156400
disease_name: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
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: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: SLC2A2
disease_id: ORPHA:2088
disease_name: Fanconi-Bickel syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
gene_symbol: TNFRSF11A
disease_id: OMIM:174810
disease_name: FAMILIAL EXPANSILE OSTEOLYSIS
gene_symbol: TNFRSF11A
disease_id: OMIM:602080
disease_name: PAGET DISEASE OF BONE 2, EARLY-ONSET
gene_symbol: ABCB4
disease_id: OMIM:600803
disease_name: GALLBLADDER DISEASE 1
gene_symbol: ABCB4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: PIGK
disease_id: OMIM:618879
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
gene_symbol: SERPINF1
disease_id: OMIM:613982
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VI
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: CYP2R1
disease_id: OMIM:600081
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
gene_symbol: CYP2R1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
gene_symbol: PIGV
disease_id: OMIM:239300
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: PHEX
disease_id: OMIM:307800
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: ACVR1
disease_id: OMIM:135100
disease_name: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
gene_symbol: COG4
disease_id: ORPHA:263501
disease_name: COG4-CDG
CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type IIj
gene_symbol: COG4
disease_id: OMIM:613489
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: OMIM:615716
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: OMIM:616025
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: OMIM:614207
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: ABCB11
disease_id: OMIM:601847
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2
gene_symbol: ABCB11
disease_id: OMIM:605479
disease_name: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2
gene_symbol: ABCB11
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: LBR
disease_id: OMIM:613471
disease_name: REYNOLDS SYNDROME
gene_symbol: TFAM
disease_id: OMIM:617156
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: HNF4A
disease_id: ORPHA:263455
disease_name: Congenital hyperinsulinism due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
gene_symbol: HNF4A
disease_id: OMIM:616026
disease_name: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: CYP27B1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
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: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: HNRNPA1
disease_id: OMIM:615424
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
gene_symbol: HNRNPA1
disease_id: OMIM:615426
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 20
gene_symbol: HNRNPA1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
gene_symbol: HNRNPA2B1
disease_id: OMIM:615422
disease_name: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
gene_symbol: HNRNPA2B1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: PIGG
disease_id: OMIM:616917
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
gene_symbol: STX5
disease_id: OMIM:620454
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: CYP3A4
disease_id: OMIM:619073
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 3
gene_symbol: CLCN7
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: PLEKHM1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: FGF23
disease_id: ORPHA:89937
disease_name: Autosomal dominant hypophosphatemic rickets
ADHR
Autosomal dominant hypophosphatemia
gene_symbol: FGF23
disease_id: OMIM:193100
disease_name: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: PRKCSH
disease_id: OMIM:174050
disease_name: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
gene_symbol: PRKCSH
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: IL12RB1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNPO3
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IL12A
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: SPIB
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: POU2AF1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNFSF15
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: MMEL1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IRF5
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: GPAA1
disease_id: ORPHA:529665
disease_name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
GPAA1-related biosynthesis defect
gene_symbol: GATM
disease_id: OMIM:134600
disease_name: FANCONI RENOTUBULAR SYNDROME 1
gene_symbol: SLC51A
disease_id: OMIM:619484
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6
gene_symbol: ATP8B1
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: NR1H4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: SQSTM1
disease_id: OMIM:167250
disease_name: PAGET DISEASE OF BONE 3
gene_symbol: ALG8
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: SEC63
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: LRP5
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: DCDC2
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: TMEM67
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SOST
disease_id: OMIM:239100
disease_name: VAN BUCHEM DISEASE
gene_symbol: SOST
disease_id: OMIM:122860
disease_name: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: VCP
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: VCP
disease_id: ORPHA:329475
disease_name: Spastic paraplegia-Paget disease of bone syndrome
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: CALR
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: JAK2
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: F5
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: ENPP1
disease_id: OMIM:613312
disease_name: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
gene_symbol: GALNT3
disease_id: OMIM:211900
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: USP53
disease_id: OMIM:619658
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS
gene_symbol: ELMO2
disease_id: OMIM:606893
disease_name: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: SLC4A2
disease_id: OMIM:620366
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9
gene_symbol: SGMS2
disease_id: OMIM:126550
disease_name: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY
gene_symbol: FKBP10
disease_id: OMIM:610968
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XI
gene_symbol: TREX1
disease_id: ORPHA:247691
disease_name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: ZNF687
disease_id: OMIM:616833
disease_name: PAGET DISEASE OF BONE 6
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: ALPL
disease_id: OMIM:146300
disease_name: HYPOPHOSPHATASIA, ADULT
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: ALPL
disease_id: OMIM:241510
disease_name: HYPOPHOSPHATASIA, CHILDHOOD
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: C18orf32
disease_id: OMIM:619985
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: PIGH
disease_id: OMIM:618010
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
gene_symbol: HNF1B
disease_id: OMIM:137920
disease_name: RENAL CYSTS AND DIABETES SYNDROME
gene_symbol: ABL1
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
gene_symbol: BCR
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
gene_symbol: CSF3R
disease_id: OMIM:162830
disease_name: NEUTROPHILIA, HEREDITARY
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: NPR3
disease_id: OMIM:619543
disease_name: BOUDIN-MORTIER SYNDROME
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: DMP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance syndrome
gene_symbol: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1