TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal pulmonary alveolar system morphology (HP:0033137)
Associated genes and diseases:
gene_symbol: SLC34A2
disease_id: OMIM:265100
disease_name: PULMONARY ALVEOLAR MICROLITHIASIS
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: GUF1
disease_id: OMIM:617065
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
Phenotype: Elevated circulating uracil concentration (HP:0033139)
Associated genes and diseases:
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
Phenotype: Blake's pouch cyst (HP:0033140)
Associated genes and diseases:
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
Phenotype: Severe SARS-CoV-2 infection (HP:0033141)
Associated genes and diseases:
gene_symbol: TLR7
disease_id: OMIM:301051
disease_name: IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED
Phenotype: Long nasal bridge (HP:0033142)
Associated genes and diseases:
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: BPTF
disease_id: OMIM:617755
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
gene_symbol: PSMC1
disease_id: OMIM:620071
disease_name: BIRK-AHARONI SYNDROME
gene_symbol: SEPTIN9
disease_id: OMIM:162100
disease_name: AMYOTROPHY, HEREDITARY NEURALGIC
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
Phenotype: Abnormal circulating ceruloplasmin concentration (HP:0033144)
Associated genes and diseases:
gene_symbol: COG2
disease_id: ORPHA:435934
disease_name: COG2-CDG
COG2-related congenital disorder of glycosylation
gene_symbol: COG2
disease_id: OMIM:617395
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
gene_symbol: AP1B1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: AP1S1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: ATP7A
disease_id: OMIM:309400
disease_name: MENKES DISEASE
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
gene_symbol: SLC31A1
disease_id: OMIM:620306
disease_name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
gene_symbol: FTH1
disease_id: OMIM:615517
disease_name: HEMOCHROMATOSIS, TYPE 5
Phenotype: Hypovalinemia (HP:0500132)
Associated genes and diseases:
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Phenotype: Hypertryptophanemia (HP:0500134)
Associated genes and diseases:
gene_symbol: TDO2
disease_id: ORPHA:2224
disease_name: Hypertryptophanemia
gene_symbol: TDO2
disease_id: OMIM:600627
disease_name: HYPERTRYPTOPHANEMIA
Phenotype: Hypoprolinemia (HP:0500139)
Associated genes and diseases:
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
Phenotype: Elevated circulating methylsuccinic acid concentration (HP:0033146)
Associated genes and diseases:
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
Phenotype: Intrahepatic bile duct dilatation (HP:0033149)
Associated genes and diseases:
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: TMEM67
disease_id: OMIM:216360
disease_name: COACH SYNDROME 1
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13
gene_symbol: WDR19
disease_id: OMIM:616307
disease_name: SENIOR-LOKEN SYNDROME 8
gene_symbol: KIF3B
disease_id: OMIM:618955
disease_name: RETINITIS PIGMENTOSA 89
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
Phenotype: Lower limb dysmetria (HP:0020035)
Associated genes and diseases:
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Phenotype: Astasia (HP:0020037)
Associated genes and diseases:
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
Phenotype: Upper limb dysmetria (HP:0020036)
Associated genes and diseases:
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
Phenotype: Vertebrobasilar dolichoectasia (HP:0020038)
Associated genes and diseases:
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Phenotype: Anorectal abscess (HP:0033150)
Associated genes and diseases:
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
Phenotype: Abnormal pharynx physiology (HP:0033152)
Associated genes and diseases:
gene_symbol: NLRP12
disease_id: OMIM:611762
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
gene_symbol: CR2
disease_id: OMIM:614699
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 7
Phenotype: Duplication of middle phalanx of toe (HP:0010202)
Associated genes and diseases:
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
Phenotype: Broad proximal phalanx of toe (HP:0010204)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
Phenotype: Hypolysinemia (HP:0500142)
Associated genes and diseases:
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
Phenotype: Abnormal circulating glutamate concentration (HP:0500148)
Associated genes and diseases:
gene_symbol: MDH1
disease_id: OMIM:618959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
gene_symbol: ATP5F1A
disease_id: OMIM:620358
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
gene_symbol: NAGS
disease_id: OMIM:237310
disease_name: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Phenotype: Hypoglutaminemia (HP:0500147)
Associated genes and diseases:
gene_symbol: GLUL
disease_id: OMIM:610015
disease_name: GLUTAMINE DEFICIENCY, CONGENITAL
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
Phenotype: Hyperglutamatemia (HP:0500149)
Associated genes and diseases:
gene_symbol: MDH1
disease_id: OMIM:618959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
gene_symbol: ATP5F1A
disease_id: OMIM:620358
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
gene_symbol: NAGS
disease_id: OMIM:237310
disease_name: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Phenotype: Hypoisoleucinemia (HP:0500144)
Associated genes and diseases:
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Phenotype: Hypoleucinemia (HP:0500143)
Associated genes and diseases:
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Phenotype: Elevated circulating deoxypyridinoline concentration (HP:0033154)
Associated genes and diseases:
gene_symbol: SERPINF1
disease_id: OMIM:613982
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VI
Phenotype: Elevated circulating L-alloisoleucine concentration (HP:0033155)
Associated genes and diseases:
gene_symbol: BCKDHA
disease_id: OMIM:248600
disease_name: MAPLE SYRUP URINE DISEASE
Phenotype: Reduced respiratory ciliary beating frequency (HP:0033158)
Associated genes and diseases:
gene_symbol: DNAJB13
disease_id: OMIM:617091
disease_name: CILIARY DYSKINESIA, PRIMARY, 34
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
Phenotype: Accommodative esotropia (HP:0020046)
Associated genes and diseases:
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: ARPC4
disease_id: OMIM:620141
disease_name: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
Phenotype: Abnormal urinary purine level (HP:0033161)
Associated genes and diseases:
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: MOCOS
disease_id: OMIM:603592
disease_name: XANTHINURIA, TYPE II
gene_symbol: CHUK
disease_id: OMIM:613630
disease_name: FETAL ENCASEMENT SYNDROME
gene_symbol: ATIC
disease_id: OMIM:608688
disease_name: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
Phenotype: Abnormal urinary pyrimidine level (HP:0033162)
Associated genes and diseases:
gene_symbol: DPYD
disease_id: OMIM:274270
disease_name: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
gene_symbol: SLC28A1
disease_id: OMIM:618477
disease_name: URIDINE-CYTIDINEURIA
gene_symbol: SLC25A21
disease_id: OMIM:618811
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 18
Phenotype: Structural foot deformity (HP:0010219)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: HACE1
disease_id: ORPHA:464282
disease_name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
gene_symbol: MYH14
disease_id: ORPHA:397744
disease_name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
Phenotype: Hypercystinemia (HP:0500151)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
Phenotype: Hyperargininemia (HP:0500153)
Associated genes and diseases:
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: SLC25A13
disease_id: OMIM:603471
disease_name: CITRULLINEMIA, TYPE II, ADULT-ONSET
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
Phenotype: Hypocystinemia (HP:0500152)
Associated genes and diseases:
gene_symbol: NFE2L2
disease_id: OMIM:617744
disease_name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
gene_symbol: GPHN
disease_id: OMIM:615501
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C
Phenotype: Abnormal circulating asparagine concentration (HP:0500155)
Associated genes and diseases:
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
Phenotype: Hypoasparaginemia (HP:0500157)
Associated genes and diseases:
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
Phenotype: Necrotizing enterocolitis (HP:0033165)
Associated genes and diseases:
gene_symbol: FCN3
disease_id: OMIM:613860
disease_name: FICOLIN 3 DEFICIENCY
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: MYH11
disease_id: OMIM:619350
disease_name: VISCERAL MYOPATHY 2
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
Phenotype: Focal active colitis (HP:0033164)
Associated genes and diseases:
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
Phenotype: Recurrent viral upper respiratory tract infections (HP:0033166)
Associated genes and diseases:
gene_symbol: NFKB2
disease_id: OMIM:615577
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 10
gene_symbol: IFIH1
disease_id: OMIM:619773
disease_name: IMMUNODEFICIENCY 95
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
Phenotype: Increased red blood cell count (HP:0020059)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:2133
disease_name: Hemoglobin E disease
Phenotype: Abnormality of the epiphysis of the 2nd metacarpal (HP:0010220)
Associated genes and diseases:
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
Phenotype: Pseudoepiphyses of second metacarpal (HP:0006179)
Associated genes and diseases:
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
Phenotype: Absent epiphyses of the phalanges of the hand (HP:0010228)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
Phenotype: Abnormal blood carbon dioxide level (HP:0500164)
Associated genes and diseases:
gene_symbol: CACNA1S
disease_id: OMIM:601887
disease_name: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
gene_symbol: CACNA1S
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: SELENON
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ACTA1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MYL2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ITGA7
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: HACD1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM3
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MAP3K20
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: NDUFS8
disease_id: OMIM:618222
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
Phenotype: Hypoornithinemia (HP:0500163)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
Phenotype: Abnormal circulating gastrin concentration (HP:0500166)
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
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
Phenotype: Hypergastrinemia (HP:0500167)
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
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
Phenotype: Submandibular lymph node enlargement (HP:0033176)
Associated genes and diseases:
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
Phenotype: Increased circulating interleukin 8 concentration (HP:0033178)
Associated genes and diseases:
gene_symbol: PLCG1
disease_id: OMIM:620514
disease_name: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION
gene_symbol: POLA1
disease_id: OMIM:301220
disease_name: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
Phenotype: Elevated circulating suberic acid concentration (HP:0033177)
Associated genes and diseases:
gene_symbol: UQCRC2
disease_id: OMIM:615160
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
Phenotype: Decreased hemoglobin concentration (HP:0020062)
Associated genes and diseases:
gene_symbol: KLF1
disease_id: OMIM:613673
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV
gene_symbol: PKLR
disease_id: OMIM:266200
disease_name: PYRUVATE KINASE DEFICIENCY OF RED CELLS
gene_symbol: PGK1
disease_id: ORPHA:713
disease_name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
Phenotype: Abnormal hemoglobin concentration (HP:0020061)
Associated genes and diseases:
gene_symbol: BPGM
disease_id: OMIM:222800
disease_name: ERYTHROCYTOSIS, FAMILIAL, 8
gene_symbol: SH2B3
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: JAK2
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: JAK2
disease_id: OMIM:263300
disease_name: POLYCYTHEMIA VERA
gene_symbol: EPOR
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: EPAS1
disease_id: OMIM:611783
disease_name: ERYTHROCYTOSIS, FAMILIAL, 4
gene_symbol: EPO
disease_id: OMIM:617907
disease_name: ERYTHROCYTOSIS, FAMILIAL, 5
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
gene_symbol: EGLN1
disease_id: OMIM:609820
disease_name: ERYTHROCYTOSIS, FAMILIAL, 3
gene_symbol: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNN4
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: HBA2
disease_id: OMIM:617981
disease_name: ERYTHROCYTOSIS, FAMILIAL, 7
gene_symbol: HBA1
disease_id: OMIM:617981
disease_name: ERYTHROCYTOSIS, FAMILIAL, 7
gene_symbol: HBB
disease_id: OMIM:617980
disease_name: ERYTHROCYTOSIS, FAMILIAL, 6
gene_symbol: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: KLF1
disease_id: OMIM:613673
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV
gene_symbol: PKLR
disease_id: OMIM:266200
disease_name: PYRUVATE KINASE DEFICIENCY OF RED CELLS
gene_symbol: PGK1
disease_id: ORPHA:713
disease_name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
Phenotype: Enlarged epiphyses of the phalanges of the hand (HP:0010231)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
Phenotype: Ivory epiphyses of the phalanges of the hand (HP:0010234)
Associated genes and diseases:
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
Phenotype: Pseudoepiphyses of the phalanges of the hand (HP:0010235)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: KCNH1
disease_id: OMIM:611816
disease_name: TEMPLE-BARAITSER SYNDROME
gene_symbol: NPR3
disease_id: OMIM:619543
disease_name: BOUDIN-MORTIER SYNDROME
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1