TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal liver enzyme activity or concentration (HP:0034685)
Associated genes and diseases:
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
gene_symbol: NAGS
disease_id: OMIM:237310
disease_name: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
gene_symbol: SLC37A4
disease_id: OMIM:232220
disease_name: GLYCOGEN STORAGE DISEASE Ib
gene_symbol: PHKG2
disease_id: OMIM:613027
disease_name: GLYCOGEN STORAGE DISEASE IXc
gene_symbol: PHKA2
disease_id: OMIM:306000
disease_name: GLYCOGEN STORAGE DISEASE IXa1
gene_symbol: PHKB
disease_id: OMIM:261750
disease_name: GLYCOGEN STORAGE DISEASE IXb
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: GRHPR
disease_id: OMIM:260000
disease_name: HYPEROXALURIA, PRIMARY, TYPE II
gene_symbol: PYGL
disease_id: OMIM:232700
disease_name: GLYCOGEN STORAGE DISEASE VI
Phenotype: Impaired cerebroside sulfate hydrolysis (HP:0034687)
Associated genes and diseases:
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
Phenotype: Reduced peroxisomal glutaryl-CoA oxidase activity (HP:0034688)
Associated genes and diseases:
gene_symbol: SUGCT
disease_id: OMIM:231690
disease_name: GLUTARIC ACIDURIA III
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
Phenotype: Giant platelets (HP:0001902)
Associated genes and diseases:
gene_symbol: ITGA2B
disease_id: OMIM:187800
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 16
gene_symbol: SLC35A1
disease_id: ORPHA:238459
disease_name: SLC35A1-CDG
CDG syndrome type IIf
CDG-IIf
CDG2F
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: MYH9
disease_id: ORPHA:182050
disease_name: MYH9-related disease
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BA
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP9
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: CD36
disease_id: OMIM:608404
disease_name: PLATELET GLYCOPROTEIN IV DEFICIENCY
gene_symbol: LBR
disease_id: OMIM:169400
disease_name: PELGER-HUET ANOMALY
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: ABCG5
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: ABCG8
disease_id: ORPHA:2882
disease_name: Sitosterolemia
Phytosterolemia
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
Phenotype: Hypoplastic anemia (HP:0001908)
Associated genes and diseases:
gene_symbol: SAMD9L
disease_id: OMIM:159550
disease_name: ATAXIA-PANCYTOPENIA SYNDROME
gene_symbol: SAMD9L
disease_id: ORPHA:2585
disease_name: Ataxia-pancytopenia syndrome
Myelocerebellar disorder
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: LPIN2
disease_id: ORPHA:77297
disease_name: Majeed syndrome
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: KIF23
disease_id: OMIM:105600
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: POMC
disease_id: OMIM:609734
disease_name: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR
gene_symbol: TBX19
disease_id: OMIM:201400
disease_name: ACTH DEFICIENCY, ISOLATED
gene_symbol: LHX3
disease_id: ORPHA:231720
disease_name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: CDH23
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: MEN1
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: AIP
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: ARNT2
disease_id: OMIM:615926
disease_name: WEBB-DATTANI SYNDROME
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
gene_symbol: ZNRF3
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TP53
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: PRKAR1A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CTNNB1
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CDKN2A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TERT
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
Phenotype: Adrenocorticotropic hormone excess (HP:0011749)
Associated genes and diseases:
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: CYP11A1
disease_id: OMIM:613743
disease_name: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
gene_symbol: HSD3B2
disease_id: ORPHA:90791
disease_name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
gene_symbol: MCM4
disease_id: OMIM:609981
disease_name: IMMUNODEFICIENCY 54
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
Phenotype: Secretory adrenocortical adenoma (HP:0011746)
Associated genes and diseases:
gene_symbol: CLCN2
disease_id: ORPHA:404
disease_name: Familial hyperaldosteronism type II
FH-II
FH2
Familial hyperaldosteronism type 2
gene_symbol: CYP11B1
disease_id: ORPHA:403
disease_name: Familial hyperaldosteronism type I
Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
gene_symbol: CYP11B2
disease_id: ORPHA:403
disease_name: Familial hyperaldosteronism type I
Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
Phenotype: Elevated urinary isovalerylglycine level (HP:6000602)
Associated genes and diseases:
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
Phenotype: Elevated urinary 2-methyl-3-hydroxybutyric acid level (HP:6000603)
Associated genes and diseases:
gene_symbol: ACAT1
disease_id: OMIM:203750
disease_name: ALPHA-METHYLACETOACETIC ACIDURIA
Phenotype: Elevated urinary 7-hydroxyoctanoic acid level (HP:6000605)
Associated genes and diseases:
gene_symbol: ACADM
disease_id: OMIM:201450
disease_name: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
Phenotype: Elevated urinary D-glyceric acid level (HP:6000606)
Associated genes and diseases:
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
Phenotype: Elevated urinary 3-hydroxyisobutyric acid level (HP:6000607)
Associated genes and diseases:
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Phenotype: Elevated urinary 3,4-Dihydroxybutyric acid level (HP:6000608)
Associated genes and diseases:
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Phenotype: Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)
Associated genes and diseases:
gene_symbol: SCNN1G
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1A
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1B
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: KCNJ5
disease_id: ORPHA:251274
disease_name: Familial hyperaldosteronism type III
FH-III
FH3
Familial hyperaldosteronism type 3
gene_symbol: CLCN2
disease_id: ORPHA:404
disease_name: Familial hyperaldosteronism type II
FH-II
FH2
Familial hyperaldosteronism type 2
Phenotype: Adrenal gland agenesis (HP:0011743)
Associated genes and diseases:
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 1
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
Phenotype: Abnormal basophil morphology (HP:0001912)
Associated genes and diseases:
gene_symbol: BCR
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: ABL1
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: RUNX1
disease_id: ORPHA:521
disease_name: Chronic myeloid leukemia
CML
Chronic granulocytic leukemia
Chronic myelogenous leukemia
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
Phenotype: Decreased total granulocyte count (HP:0001913)
Associated genes and diseases:
gene_symbol: UNC13D
disease_id: OMIM:608898
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: TET2
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: RPS28
disease_id: OMIM:606164
disease_name: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: ELANE
disease_id: OMIM:202700
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
gene_symbol: AK2
disease_id: OMIM:267500
disease_name: RETICULAR DYSGENESIS
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
Phenotype: Renal amyloidosis (HP:0001917)
Associated genes and diseases:
gene_symbol: NLRP3
disease_id: ORPHA:575
disease_name: Muckle-Wells syndrome
Neutrophilic urticaria
gene_symbol: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
gene_symbol: NLRP3
disease_id: OMIM:120100
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: MEFV
disease_id: OMIM:134610
disease_name: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
gene_symbol: FGA
disease_id: OMIM:105200
disease_name: AMYLOIDOSIS, FAMILIAL VISCERAL
gene_symbol: GSN
disease_id: OMIM:105120
disease_name: AMYLOIDOSIS, FINNISH TYPE
Phenotype: Posterior pituitary agenesis (HP:0011756)
Associated genes and diseases:
gene_symbol: MTHFR
disease_id: ORPHA:563612
disease_name: Isolated exencephaly
gene_symbol: VANGL2
disease_id: ORPHA:563612
disease_name: Isolated exencephaly
Phenotype: Pituitary gonadotropic cell adenoma (HP:0011759)
Associated genes and diseases:
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
Phenotype: Posterior pituitary hypoplasia (HP:0011757)
Associated genes and diseases:
gene_symbol: OTX2
disease_id: OMIM:613986
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
gene_symbol: DYRK1A
disease_id: ORPHA:464311
disease_name: Intellectual disability syndrome due to a DYRK1A point mutation
DYRK1A-related intellectual disability syndrome due to a point mutation
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
Phenotype: Elevated circulating chitotriosidase activity (HP:6000611)
Associated genes and diseases:
gene_symbol: PSAP
disease_id: ORPHA:309252
disease_name: Atypical Gaucher disease due to saposin C deficiency
Phenotype: Squamosal suture synostosis (HP:6000612)
Associated genes and diseases:
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
Phenotype: Enlarged fetal lungs (HP:6000613)
Associated genes and diseases:
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
Phenotype: Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts (HP:6000615)
Associated genes and diseases:
gene_symbol: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
Phenotype: Reduced muscle glycogen debrancher enzyme activity (HP:6000616)
Associated genes and diseases:
gene_symbol: AGL
disease_id: OMIM:232400
disease_name: GLYCOGEN STORAGE DISEASE III
Phenotype: Reduced tissue UDP-glucuronyl-transferase activity (HP:6000617)
Associated genes and diseases:
gene_symbol: UGT1A1
disease_id: OMIM:606785
disease_name: CRIGLER-NAJJAR SYNDROME, TYPE II
Phenotype: Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts (HP:6000619)
Associated genes and diseases:
gene_symbol: PCK1
disease_id: OMIM:261680
disease_name: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated genes and diseases:
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
Phenotype: Renal artery stenosis (HP:0001920)
Associated genes and diseases:
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: YY1AP1
disease_id: OMIM:602531
disease_name: GRANGE SYNDROME
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: ENPP1
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: ABCC6
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: TMEM127
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: MAX
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: KIF1B
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: RET
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: VHL
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21