TaoMedAI/RareMedData huggingface dataset:
Phenotype: Impaired nasal mucociliary clearance (HP:0031603)
Associated genes and diseases:
gene_symbol: GAS2L2
disease_id: OMIM:618449
disease_name: CILIARY DYSKINESIA, PRIMARY, 41
Phenotype: Retinal cotton wool spot (HP:0031606)
Associated genes and diseases:
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
Phenotype: Increased level of galactitol in plasma (HP:0410061)
Associated genes and diseases:
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: GALK1
disease_id: ORPHA:79237
disease_name: Galactokinase deficiency
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
Phenotype: Increased level of galactitol in urine (HP:0410062)
Associated genes and diseases:
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: GALK1
disease_id: ORPHA:79237
disease_name: Galactokinase deficiency
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
Phenotype: Increased level of galactonate in red blood cells (HP:0410063)
Associated genes and diseases:
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
Phenotype: Increased level of galactitol in red blood cells (HP:0410064)
Associated genes and diseases:
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
Phenotype: Increased level of hippuric acid in urine (HP:0410066)
Associated genes and diseases:
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
gene_symbol: HMGCL
disease_id: OMIM:246450
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
gene_symbol: BCKDHA
disease_id: OMIM:248600
disease_name: MAPLE SYRUP URINE DISEASE
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated genes and diseases:
gene_symbol: IL1B
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: ERBB2
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: IL1RN
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: APC
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: CASP10
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: IRF1
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: FGFR2
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KRAS
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KRAS
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: PIK3CA
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KLF6
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: MUTYH
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KRT18
disease_id: OMIM:215600
disease_name: CIRRHOSIS, FAMILIAL
gene_symbol: ACVR1B
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: SMAD4
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: STK11
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: TP53
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
Phenotype: Increased level of propylene glycol in blood (HP:0410069)
Associated genes and diseases:
gene_symbol: KRT18
disease_id: OMIM:215600
disease_name: CIRRHOSIS, FAMILIAL
Phenotype: Pelvic organ prolapse (HP:0031607)
Associated genes and diseases:
gene_symbol: CBS
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: MFAP5
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: IPO8
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: THSD4
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: AEBP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FKBP14
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: COL3A1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: SKI
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PLOD1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: PMEPA1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LTBP3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ASPH
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EMILIN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LOX
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SLC2A10
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: BGN
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ABL1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
Phenotype: Geographic atrophy (HP:0031609)
Associated genes and diseases:
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: HGSNAT
disease_id: OMIM:616544
disease_name: RETINITIS PIGMENTOSA 73
gene_symbol: IMPDH1
disease_id: OMIM:180105
disease_name: RETINITIS PIGMENTOSA 10
gene_symbol: APOE
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR3
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: HMCN1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
Phenotype: Recurrent shoulder dislocation (HP:0031610)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: OMIM:212112
disease_name: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
Phenotype: Inferior chorioretinal coloboma (HP:0031613)
Associated genes and diseases:
gene_symbol: ABCB6
disease_id: OMIM:614497
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
Phenotype: Increased level of ribitol in urine (HP:0410070)
Associated genes and diseases:
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Phenotype: Increased CSF ribitol concentration (HP:0410071)
Associated genes and diseases:
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Phenotype: Increased level of ribose in urine (HP:0410072)
Associated genes and diseases:
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: TKT
disease_id: ORPHA:488618
disease_name: Transketolase deficiency
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
Phenotype: Increased CSF ribose concentration (HP:0410073)
Associated genes and diseases:
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Phenotype: Increased level of xylitol in urine (HP:0410074)
Associated genes and diseases:
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Phenotype: Increased CSF xylitol concentration (HP:0410075)
Associated genes and diseases:
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Phenotype: Brow ptosis (HP:0031623)
Associated genes and diseases:
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
Phenotype: Moderate myopia (HP:0031624)
Associated genes and diseases:
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: FLNA
disease_id: ORPHA:555877
disease_name: FLNA-related X-linked myxomatous valvular dysplasia
FLNA-related valvular dystrophy
Filamin A-related X-linked myxomatous valvular dysplasia
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
gene_symbol: COL9A3
disease_id: OMIM:620022
disease_name: STICKLER SYNDROME, TYPE VI
gene_symbol: PDE6B
disease_id: OMIM:163500
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
Phenotype: Pseudoaneurysm (HP:0031625)
Associated genes and diseases:
gene_symbol: EXT1
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT2
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
Phenotype: Globus pallidus calcification (HP:0031627)
Associated genes and diseases:
gene_symbol: AGO1
disease_id: OMIM:620292
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
Phenotype: Impaired tandem gait (HP:0031629)
Associated genes and diseases:
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: MTRFR
disease_id: ORPHA:254930
disease_name: Combined oxidative phosphorylation defect type 7
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: COQ5
disease_id: OMIM:619028
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 9
gene_symbol: JAG1
disease_id: OMIM:619574
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH
gene_symbol: KCNN2
disease_id: OMIM:619724
disease_name: DYSTONIA 34, MYOCLONIC
gene_symbol: PCDH15
disease_id: OMIM:602083
disease_name: USHER SYNDROME, TYPE IF
gene_symbol: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: TBC1D24
disease_id: OMIM:605021
disease_name: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE
Phenotype: Abnormal circulating calcitonin concentration (HP:0034902)
Associated genes and diseases:
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: RET
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: RET
disease_id: OMIM:171400
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: VHL
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: DLST
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MDH2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHA
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: KIF1B
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: FH
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SLC25A11
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHAF2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: TMEM127
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: NF1
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHC
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHD
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHB
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MAX
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
Phenotype: Elevated circulating uroporphyrin concentration (HP:0034905)
Associated genes and diseases:
gene_symbol: UROS
disease_id: OMIM:263700
disease_name: PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Phenotype: Abnormal subpleural morphology (HP:0031630)
Associated genes and diseases:
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
gene_symbol: SFTPC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA2
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: STN1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DSP
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: MUC5B
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: FAM13A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ATP11A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DPP9
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: RTEL1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERT
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Subpleural honeycombing (HP:0031631)
Associated genes and diseases:
gene_symbol: SFTPC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA2
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: STN1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DSP
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: MUC5B
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: FAM13A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ATP11A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DPP9
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: RTEL1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERT
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Anomalous origin of the left common carotid artery from the brachiocephalic artery (HP:0031635)
Associated genes and diseases:
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
Phenotype: Acrosomal hypoplasia (HP:0034913)
Associated genes and diseases:
gene_symbol: ACTL7A
disease_id: OMIM:620499
disease_name: SPERMATOGENIC FAILURE 86
gene_symbol: TEKT3
disease_id: OMIM:620277
disease_name: SPERMATOGENIC FAILURE 81
Phenotype: Oocyte maturation arrest (HP:0034914)
Associated genes and diseases:
gene_symbol: PATL2
disease_id: OMIM:617743
disease_name: OOCYTE MATURATION DEFECT 4
gene_symbol: PATL2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TUBB8
disease_id: OMIM:616780
disease_name: OOCYTE MATURATION DEFECT 2
gene_symbol: TUBB8
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TRIP13
disease_id: OMIM:619011
disease_name: OOCYTE MATURATION DEFECT 9
gene_symbol: PANX1
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: WEE2
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: TLE6
disease_id: ORPHA:488191
disease_name: Female infertility due to oocyte meiotic arrest
gene_symbol: CDC20
disease_id: OMIM:620276
disease_name: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14
Phenotype: Reduced muscle 2,4-dienoyl-CoA reductase activity (HP:0034918)
Associated genes and diseases:
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
Phenotype: Reduced liver 2,4-dienoyl-CoA reductase activity (HP:0034919)
Associated genes and diseases:
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
Phenotype: Fusiform ascending tubular aorta aneurysm (HP:0031643)
Associated genes and diseases:
gene_symbol: LOX
disease_id: OMIM:617168
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 10
Phenotype: Aortic rupture (HP:0031649)
Associated genes and diseases:
gene_symbol: FKBP14
disease_id: OMIM:614557
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
gene_symbol: MYLK
disease_id: OMIM:613780
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 7
Phenotype: Abnormal dermis morphology (HP:0034924)
Associated genes and diseases:
gene_symbol: SAMHD1
disease_id: OMIM:614415
disease_name: CHILBLAIN LUPUS 2
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
Phenotype: Quadricuspid aortic valve (HP:0031655)
Associated genes and diseases:
gene_symbol: TNXB
disease_id: OMIM:606408
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE
Phenotype: Systolic anterior motion of the mitral valve (HP:0031656)
Associated genes and diseases:
gene_symbol: MYL2
disease_id: OMIM:608758
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
gene_symbol: KLHL24
disease_id: OMIM:620236
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES
gene_symbol: FHOD3
disease_id: OMIM:619402
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28
Phenotype: Third heart sound (HP:0031658)
Associated genes and diseases:
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
Phenotype: Fourth heart sound (HP:0031659)
Associated genes and diseases:
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Phenotype: Abnormal circulating 7-dehydrocholesterol concentration (HP:0034934)
Associated genes and diseases:
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
Phenotype: Elevated circulating lathosterol concentration (HP:0034936)
Associated genes and diseases:
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
Phenotype: Elevated circulating desmosterol concentration (HP:0034937)
Associated genes and diseases:
gene_symbol: DHCR24
disease_id: OMIM:602398
disease_name: DESMOSTEROLOSIS
Phenotype: Abnormal second heart sound (HP:0031661)
Associated genes and diseases:
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
gene_symbol: BMPR2
disease_id: OMIM:265450
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
gene_symbol: SMAD9
disease_id: OMIM:615342
disease_name: PULMONARY HYPERTENSION, PRIMARY, 2