Property Summary

NCBI Gene PubMed Count 138
PubMed Score 544.76
PubTator Score 361.68

Knowledge Summary

Patent (33,772)

TINX Plot

  Disease (7)

Disease Target Count
Azoospermia 110
Abnormal sex determination 11
Abnormality of the labia 9
Abnormality of the scrotum 9
Absence of pubertal development 17
Adrenal hypoplasia 12
Ambiguous Genitalia 24
Autosomal recessive predisposition 1442
Congenital hypoplasia of adrenal gland 2
Congenital hypoplasia of penis 176
Cryptorchidism 296
Decreased fertility in females 20
Decreased testosterone in males 28
Dehydration 40
Delayed Puberty 97
Elevated follicle stimulating hormone 15
Elevated luteinizing hormone 14
Failure to gain weight 365
Female external genitalia in males 13
Gonadal Dysgenesis 28
Gonadal Dysgenesis, Mixed 19
Gynecomastia 64
Hyperpigmentation 37
Hypertrophy of clitoris 40
Hypoaldosteronism 12
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hyponatremia 25
Hypoplasia of vagina 14
Low serum estradiol levels 22
Low to undetectable plasma cortisol 12
Male Pseudohermaphroditism 19
Male infertility 206
Mineralocorticoid insufficiency 12
Muscle biopsy shows dystrophic changes 39
Muscular dystrophy 75
Osteoporosis 363
Pediatric failure to thrive 365
Penile hypospadias 106
Polycystic ovary syndrome 360
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Pure gonadal dysgenesis 19
Renal salt wasting 18
Rudimentary vagina 14
Sclerocystic Ovaries 17
Sex reversal 10
Small adrenal gland 12
Small testicle 75
Sparse axillary hair 28
Sparse pubic hair 31
Streak ovary 15
Swyer Syndrome 8
Testicular dysgenesis 9
Testicular regression syndrome 9
Urogenital sinus anomaly 15
X- linked recessive 110
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
X-linked adrenal hypoplasia congenita 11 8.023 4.0

Expression

  Differential Expression (6)

Disease log2 FC p
Astrocytoma, Pilocytic 1.200 2.9e-06
lung cancer 1.200 9.3e-03
lung carcinoma 1.400 1.6e-14
ovarian cancer -2.900 7.2e-11
pituitary cancer 2.000 3.2e-03
subependymal giant cell astrocytoma 2.397 3.4e-02

Gene RIF (91)

AA Sequence

MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCG      1 - 70
KDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHP     71 - 140
RQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQG    141 - 210
STLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPL    211 - 280
DQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEAR    281 - 350
KVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ    351 - 420
GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI                        421 - 470
//

Text Mined References (137)

PMID Year Title