TaoMedAI/RareMedData huggingface dataset:
Phenotype: Myocarditis (HP:0012819)
Associated genes and diseases:
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: GPX4
disease_id: ORPHA:93317
disease_name: Spondylometaphyseal dysplasia, Sedaghatian type
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: CALM1
disease_id: OMIM:616247
disease_name: LONG QT SYNDROME 14
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: PPA2
disease_id: OMIM:617222
disease_name: SUDDEN CARDIAC FAILURE, INFANTILE
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
Phenotype: Increased circulating argininosuccinic acid (HP:0032491)
Associated genes and diseases:
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
Phenotype: Abnormal terminal:vellus ratio (HP:0032495)
Associated genes and diseases:
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Phenotype: Reduced terminal:vellus ratio (HP:0032497)
Associated genes and diseases:
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Phenotype: Giant neutrophil granules (HP:0032499)
Associated genes and diseases:
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
Phenotype: Unilateral vocal cord paresis (HP:0012821)
Associated genes and diseases:
gene_symbol: HAAO
disease_id: OMIM:617660
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
Phenotype: Bilateral vocal cord paresis (HP:0012822)
Associated genes and diseases:
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
Phenotype: Skin appendage neoplasm (HP:0012842)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: SEC23B
disease_id: OMIM:616858
disease_name: COWDEN SYNDROME 7
gene_symbol: KLLN
disease_id: OMIM:615107
disease_name: COWDEN SYNDROME 4
gene_symbol: PTEN
disease_id: ORPHA:65285
disease_name: Lhermitte-Duclos disease
Dysplastic gangliocytoma of the cerebellum
LDD
gene_symbol: MLH1
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MSH2
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: CTNNB1
disease_id: ORPHA:91414
disease_name: Pilomatrixoma
Epithelioma calcificans of Malherbe
Pilomatricoma
gene_symbol: CTNNB1
disease_id: OMIM:132600
disease_name: PILOMATRIXOMA
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
Phenotype: Hair follicle neoplasm (HP:0012843)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: SEC23B
disease_id: OMIM:616858
disease_name: COWDEN SYNDROME 7
gene_symbol: KLLN
disease_id: OMIM:615107
disease_name: COWDEN SYNDROME 4
gene_symbol: PTEN
disease_id: ORPHA:65285
disease_name: Lhermitte-Duclos disease
Dysplastic gangliocytoma of the cerebellum
LDD
Phenotype: Trichilemmoma (HP:0012844)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: SEC23B
disease_id: OMIM:616858
disease_name: COWDEN SYNDROME 7
gene_symbol: KLLN
disease_id: OMIM:615107
disease_name: COWDEN SYNDROME 4
gene_symbol: PTEN
disease_id: ORPHA:65285
disease_name: Lhermitte-Duclos disease
Dysplastic gangliocytoma of the cerebellum
LDD
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated genes and diseases:
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: MRM2
disease_id: OMIM:618567
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 17
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: TWNK
disease_id: OMIM:271245
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
Phenotype: Small intestinal stenosis (HP:0012848)
Associated genes and diseases:
gene_symbol: FOXF1
disease_id: ORPHA:210122
disease_name: Congenital alveolar capillary dysplasia
ACDMPV
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary vessels
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: STRA6
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: WNT7B
disease_id: ORPHA:2470
disease_name: Matthew-Wood syndrome
Anophthalmia-pulmonary hypoplasia syndrome
PDAC syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
Phenotype: Small intestinal dysmotility (HP:0012850)
Associated genes and diseases:
gene_symbol: POLG
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: TYMP
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: LIG3
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: RRM2B
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: MYO1H
disease_id: OMIM:619482
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION
gene_symbol: CPOX
disease_id: ORPHA:79273
disease_name: Hereditary coproporphyria
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated genes and diseases:
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: USP53
disease_id: OMIM:619658
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
gene_symbol: CYP7B1
disease_id: OMIM:613812
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
gene_symbol: RINT1
disease_id: OMIM:618641
disease_name: INFANTILE LIVER FAILURE SYNDROME 3
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: FADD
disease_id: OMIM:613759
disease_name: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
Phenotype: Scrotal hypospadias (HP:0012853)
Associated genes and diseases:
gene_symbol: HSD3B2
disease_id: OMIM:201810
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
gene_symbol: CYB5A
disease_id: OMIM:250790
disease_name: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA
Phenotype: Midshaft hypospadias (HP:0012854)
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
Phenotype: Scrotal hyperpigmentation (HP:0012855)
Associated genes and diseases:
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
Phenotype: Abnormal scrotal rugation (HP:0012856)
Associated genes and diseases:
gene_symbol: SOX9
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: NR5A1
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: SRY
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: TOE1
disease_id: ORPHA:284339
disease_name: Pontocerebellar hypoplasia type 7
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
gene_symbol: MINPP1
disease_id: ORPHA:284339
disease_name: Pontocerebellar hypoplasia type 7
PCH7
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
Phenotype: Testicular fibrosis (HP:0012860)
Associated genes and diseases:
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
Phenotype: Ovotestis (HP:0012861)
Associated genes and diseases:
gene_symbol: SOX9
disease_id: OMIM:616425
disease_name: 46,XY SEX REVERSAL 10
gene_symbol: SOX9
disease_id: OMIM:278850
disease_name: 46,XX SEX REVERSAL 2
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: SRY
disease_id: OMIM:400045
disease_name: 46,XX SEX REVERSAL 1
gene_symbol: NR5A1
disease_id: OMIM:617480
disease_name: 46,XX SEX REVERSAL 4
gene_symbol: RSPO1
disease_id: OMIM:610644
disease_name: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated genes and diseases:
gene_symbol: SPACA1
disease_id: OMIM:620490
disease_name: SPERMATOGENIC FAILURE 85
gene_symbol: CCDC62
disease_id: OMIM:619803
disease_name: SPERMATOGENIC FAILURE 67
gene_symbol: GGN
disease_id: OMIM:619826
disease_name: SPERMATOGENIC FAILURE 69
gene_symbol: CATSPERT
disease_id: OMIM:619805
disease_name: SPERMATOGENIC FAILURE 68
gene_symbol: ZPBP
disease_id: OMIM:619799
disease_name: SPERMATOGENIC FAILURE 66
gene_symbol: DPY19L2
disease_id: OMIM:613958
disease_name: SPERMATOGENIC FAILURE 9
gene_symbol: SPATA16
disease_id: OMIM:102530
disease_name: SPERMATOGENIC FAILURE 6
gene_symbol: CT55
disease_id: OMIM:301106
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 7
gene_symbol: CCIN
disease_id: OMIM:620838
disease_name: SPERMATOGENIC FAILURE 91
gene_symbol: STRC
disease_id: OMIM:611102
disease_name: DEAFNESS-INFERTILITY SYNDROME
gene_symbol: CATSPER2
disease_id: OMIM:611102
disease_name: DEAFNESS-INFERTILITY SYNDROME
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: CYLC1
disease_id: OMIM:301119
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 8
gene_symbol: FBXO43
disease_id: OMIM:619696
disease_name: SPERMATOGENIC FAILURE 64
gene_symbol: ACTL7A
disease_id: OMIM:620499
disease_name: SPERMATOGENIC FAILURE 86
gene_symbol: ARMC2
disease_id: OMIM:618433
disease_name: SPERMATOGENIC FAILURE 38
gene_symbol: BRDT
disease_id: OMIM:617644
disease_name: SPERMATOGENIC FAILURE 21
gene_symbol: PMFBP1
disease_id: OMIM:618112
disease_name: SPERMATOGENIC FAILURE 31
gene_symbol: PMFBP1
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
gene_symbol: SUN5
disease_id: OMIM:617187
disease_name: SPERMATOGENIC FAILURE 16
gene_symbol: SUN5
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
gene_symbol: TSGA10
disease_id: OMIM:617961
disease_name: SPERMATOGENIC FAILURE 26
gene_symbol: CEP112
disease_id: OMIM:619044
disease_name: SPERMATOGENIC FAILURE 44
gene_symbol: AURKC
disease_id: OMIM:243060
disease_name: SPERMATOGENIC FAILURE 5
gene_symbol: CFAP91
disease_id: OMIM:619177
disease_name: SPERMATOGENIC FAILURE 51
gene_symbol: USP26
disease_id: OMIM:301101
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 6
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: TTC29
disease_id: OMIM:618745
disease_name: SPERMATOGENIC FAILURE 42
gene_symbol: CFAP69
disease_id: OMIM:617959
disease_name: SPERMATOGENIC FAILURE 24
gene_symbol: ACTL9
disease_id: OMIM:619258
disease_name: SPERMATOGENIC FAILURE 53
gene_symbol: CATIP
disease_id: OMIM:619379
disease_name: SPERMATOGENIC FAILURE 54
gene_symbol: DNAH17
disease_id: OMIM:618643
disease_name: SPERMATOGENIC FAILURE 39
gene_symbol: CFAP70
disease_id: OMIM:618670
disease_name: SPERMATOGENIC FAILURE 41
gene_symbol: TEKT3
disease_id: OMIM:620277
disease_name: SPERMATOGENIC FAILURE 81
gene_symbol: ACR
disease_id: OMIM:620500
disease_name: SPERMATOGENIC FAILURE 87
Phenotype: Abnormal sperm mid-piece morphology (HP:0012867)
Associated genes and diseases:
gene_symbol: DNHD1
disease_id: OMIM:619712
disease_name: SPERMATOGENIC FAILURE 65
gene_symbol: SUN5
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
gene_symbol: PMFBP1
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated genes and diseases:
gene_symbol: SPACA1
disease_id: OMIM:620490
disease_name: SPERMATOGENIC FAILURE 85
gene_symbol: BRDT
disease_id: OMIM:617644
disease_name: SPERMATOGENIC FAILURE 21
gene_symbol: PMFBP1
disease_id: OMIM:618112
disease_name: SPERMATOGENIC FAILURE 31
gene_symbol: PMFBP1
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
gene_symbol: SUN5
disease_id: OMIM:617187
disease_name: SPERMATOGENIC FAILURE 16
gene_symbol: SUN5
disease_id: ORPHA:529970
disease_name: Male infertility due to acephalic spermatozoa
Acephalic spermatozoa syndrome
gene_symbol: ACTL7A
disease_id: OMIM:620499
disease_name: SPERMATOGENIC FAILURE 86
gene_symbol: TSGA10
disease_id: OMIM:617961
disease_name: SPERMATOGENIC FAILURE 26
gene_symbol: CEP112
disease_id: OMIM:619044
disease_name: SPERMATOGENIC FAILURE 44
Phenotype: Vanishing testis (HP:0012870)
Associated genes and diseases:
gene_symbol: DHX37
disease_id: OMIM:273250
disease_name: 46,XY SEX REVERSAL 11
gene_symbol: DHX37
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MAP3K1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WT1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SRY
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR0B1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis