TaoMedAI/RareMedData huggingface dataset:
Phenotype: Prominent glabella (HP:0002057)
Associated genes and diseases:
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: RSPO2
disease_id: OMIM:618022
disease_name: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: ALX1
disease_id: OMIM:613456
disease_name: FRONTONASAL DYSPLASIA 3
gene_symbol: SPOP
disease_id: OMIM:618828
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 1
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
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
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: INTS8
disease_id: OMIM:618572
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
gene_symbol: TMEM53
disease_id: OMIM:619727
disease_name: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
Phenotype: Supraauricular pit (HP:0008606)
Associated genes and diseases:
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: TFAP2A
disease_id: ORPHA:1297
disease_name: Branchio-oculo-facial syndrome
BOFS
Phenotype: Unilateral external ear deformity (HP:0008605)
Associated genes and diseases:
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
Phenotype: Hypertrophic auricular cartilage (HP:0008608)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:222600
disease_name: DIASTROPHIC DYSPLASIA
Phenotype: Progressive conductive hearing impairment (HP:0008607)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
Phenotype: Anterior creases of earlobe (HP:0009908)
Associated genes and diseases:
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: TBX1
disease_id: ORPHA:1727
disease_name: 22q11.2 duplication syndrome
22q11.2 microduplication syndrome
Dup(22)(q11)
Duplication 22q11.2
Trisomy 22q11.2
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated genes and diseases:
gene_symbol: MAPT
disease_id: ORPHA:240085
disease_name: Progressive supranuclear palsy-predominant parkinsonism syndrome
PSP-p
PSP-parkinsonism
gene_symbol: MAPT
disease_id: ORPHA:240071
disease_name: Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
Phenotype: Infantile sensorineural hearing impairment (HP:0008610)
Associated genes and diseases:
gene_symbol: SARDH
disease_id: ORPHA:3129
disease_name: Sarcosinemia
Sarcosine dehydrogenase complex deficiency
gene_symbol: PRG4
disease_id: ORPHA:2848
disease_name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: TK2
disease_id: ORPHA:254875
disease_name: Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
Phenotype: Forehead hyperpigmentation (HP:0005336)
Associated genes and diseases:
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated genes and diseases:
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: CLN8
disease_id: OMIM:600143
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8
gene_symbol: CLN8
disease_id: OMIM:610003
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
gene_symbol: CLN6
disease_id: OMIM:601780
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 6
gene_symbol: TPP1
disease_id: OMIM:204500
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 2
gene_symbol: DNAJC5
disease_id: OMIM:162350
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
Phenotype: Migraine with aura (HP:0002077)
Associated genes and diseases:
gene_symbol: NOTCH3
disease_id: ORPHA:136
disease_name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
CADASIL
Hereditary multi-infarct dementia
gene_symbol: EDNRA
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: ESR1
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: TNF
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
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: CSNK1D
disease_id: OMIM:615224
disease_name: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
gene_symbol: KCNK18
disease_id: OMIM:613656
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: SCN1A
disease_id: OMIM:609634
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 3
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: CACNA1A
disease_id: OMIM:141500
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 1
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: OMIM:602481
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
Phenotype: Abnormal stapes morphology (HP:0008628)
Associated genes and diseases:
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: GDF6
disease_id: OMIM:617898
disease_name: MULTIPLE SYNOSTOSES SYNDROME 4
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A1
disease_id: OMIM:166200
disease_name: OSTEOGENESIS IMPERFECTA, TYPE I
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: FOXL1
disease_id: OMIM:620576
disease_name: OTOSCLEROSIS 11
gene_symbol: SMARCA4
disease_id: OMIM:620792
disease_name: OTOSCLEROSIS 12
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: NOG
disease_id: OMIM:184460
disease_name: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
gene_symbol: NOG
disease_id: OMIM:185800
disease_name: SYMPHALANGISM, PROXIMAL, 1A
gene_symbol: POU3F4
disease_id: OMIM:304400
disease_name: DEAFNESS, X-LINKED 2
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
gene_symbol: GJB2
disease_id: OMIM:304400
disease_name: DEAFNESS, X-LINKED 2
gene_symbol: GJB6
disease_id: OMIM:304400
disease_name: DEAFNESS, X-LINKED 2
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: ENPP1
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: 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: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: STAG2
disease_id: OMIM:301022
disease_name: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
Phenotype: Migraine without aura (HP:0002083)
Associated genes and diseases:
gene_symbol: CSNK1D
disease_id: OMIM:615224
disease_name: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
gene_symbol: EDNRA
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: ESR1
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: TNF
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: CACNA1A
disease_id: OMIM:183086
disease_name: SPINOCEREBELLAR ATAXIA 6
gene_symbol: KCNK18
disease_id: OMIM:613656
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
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: Gonadal hypoplasia (HP:0008639)
Associated genes and diseases:
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
Phenotype: Agonadism (HP:0008633)
Associated genes and diseases:
gene_symbol: TRAIP
disease_id: OMIM:616777
disease_name: SECKEL SYNDROME 9
gene_symbol: DHX37
disease_id: ORPHA:983
disease_name: Testicular regression syndrome
ETRS
Embryonic testicular regression syndrome
TRS
Vanishing testes syndrome
Vanishing testis syndrome
XY gonadal agenesis syndrome
Phenotype: Urinary bladder wall hypertrophy (HP:0008635)
Associated genes and diseases:
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
Phenotype: Aplasia of the thymus (HP:0005359)
Associated genes and diseases:
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
Phenotype: Congenital macroorchidism (HP:0008640)
Associated genes and diseases:
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
Phenotype: Nephroblastomatosis (HP:0008643)
Associated genes and diseases:
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN SYNDROME
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
Phenotype: Pubertal developmental failure in females (HP:0008647)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
Phenotype: Recurrent Neisserial infections (HP:0005430)
Associated genes and diseases:
gene_symbol: C6
disease_id: OMIM:612446
disease_name: COMPLEMENT COMPONENT 6 DEFICIENCY
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: MBL2
disease_id: OMIM:614372
disease_name: MANNOSE-BINDING LECTIN DEFICIENCY
gene_symbol: CFB
disease_id: OMIM:615561
disease_name: COMPLEMENT FACTOR B DEFICIENCY
gene_symbol: C7
disease_id: OMIM:610102
disease_name: COMPLEMENT COMPONENT 7 DEFICIENCY
gene_symbol: C8B
disease_id: OMIM:613789
disease_name: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
gene_symbol: C5
disease_id: OMIM:609536
disease_name: COMPLEMENT COMPONENT 5 DEFICIENCY
Phenotype: Symphalangism affecting the middle phalanx of the 4th toe (HP:0100471)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Symphalangism affecting the middle phalanx of the 5th toe (HP:0100472)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Symphalangism affecting the proximal phalanx of the 4th toe (HP:0100474)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Symphalangism affecting the proximal phalanx of the 5th toe (HP:0100475)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated genes and diseases:
gene_symbol: IL2RG
disease_id: ORPHA:276
disease_name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
SCIDX1
T-B+ SCID due to gamma chain deficiency
T-B+ severe combined immunodeficiency, X-linked
gene_symbol: STX1A
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GSTM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: TGFB1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GCLC
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC11A1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: DCTN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: KCNN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: MIF
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: EDNRA
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC9A3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HMOX1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC26A9
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HFE
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC6A14
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SERPINA1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CFTR
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CFTR
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
gene_symbol: CLCA4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM6
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: RPGR
disease_id: OMIM:300455
disease_name: RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS
gene_symbol: SCNN1G
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
gene_symbol: SCNN1A
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
gene_symbol: SCNN1B
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
Phenotype: Uric acid urolithiasis independent of gout (HP:0008651)
Associated genes and diseases:
gene_symbol: SLC2A9
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: SLC22A12
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
Phenotype: Autonomic erectile dysfunction (HP:0008652)
Associated genes and diseases:
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: COQ2
disease_id: ORPHA:98933
disease_name: Multiple system atrophy, parkinsonian type
MSA, parkinsonian type
MSA-p
Phenotype: Crescentic glomerulonephritis (HP:0008653)
Associated genes and diseases:
gene_symbol: COPA
disease_id: OMIM:616414
disease_name: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
Phenotype: Aplasia/Hypoplasia of the fallopian tube (HP:0008655)
Associated genes and diseases:
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: DCAF17
disease_id: OMIM:241080
disease_name: WOODHOUSE-SAKATI SYNDROME
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 1
gene_symbol: DHH
disease_id: OMIM:233420
disease_name: 46,XY SEX REVERSAL 7
gene_symbol: WNT4
disease_id: OMIM:158330
disease_name: MULLERIAN APLASIA AND HYPERANDROGENISM
Phenotype: Multiple small medullary renal cysts (HP:0008659)
Associated genes and diseases:
gene_symbol: TMEM67
disease_id: OMIM:216360
disease_name: COACH SYNDROME 1
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: AP2S1
disease_id: OMIM:600740
disease_name: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Phenotype: Decreased T cell activation (HP:0005419)
Associated genes and diseases:
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: CASP8
disease_id: OMIM:607271
disease_name: CASPASE 8 DEFICIENCY
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
Phenotype: Recurrent protozoan infections (HP:0005386)
Associated genes and diseases:
gene_symbol: CIITA
disease_id: OMIM:209920
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE II
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: IL12RB1
disease_id: ORPHA:319552
disease_name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Phenotype: Proximal/middle symphalangism of 4th toe (HP:0100481)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1