Search references for NPHP4. Phrases containing NPHP4
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Protein-coding gene in the species Homo sapiens
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene. This gene encodes a protein which contains a proline-rich region. The encoded
NPHP4
Congenital eye disorder
Type OMIM Genes SLSN1 266900 NPHP1 SLSN3 606995 unknown SLSN4 606996 NPHP4 SLSN5 609254 NPHP5/IQCB1 SLSN6 610189 NPHP6/CEP290 SLSN7 613615 SDCCAG8
Senior–Løken_syndrome
Medical condition
this can be explained by its relation with inversin gene. NPHP1, NPHP3, NPHP4, NPHP5, and NPHP6 are sometimes seen with retinitis pigmentosa, this particular
Nephronophthisis
Medical condition
them to conclude "Our findings suggest that the NPHP genes (NPHP1, NPHP3, NPHP4) involved in the pathogenesis of recessive cystic kidney disease also belong
Conorenal_syndrome
Genetic disease resulting in abnormal formation or function of cilia
DNAI2, KTU, RSPH4A, RSPH9, LRRC50 Senior–Løken syndrome 266900 NPHP1, NPHP4, IQCB1, CEP290, SDCCAG8 Sensenbrenner syndrome (cranioectodermal dysplasia)
Ciliopathy
Q9Y5X5 10714 NPHP1 HGNC:7905; O15259 10715 NPHP3 HGNC:7907; Q7Z494 10716 NPHP4 HGNC:19104; O75161 10717 NPHS1 HGNC:7908; O60500 10718 NPHS2 HGNC:13394;
List of human protein-coding genes 5
List_of_human_protein-coding_genes_5
602088; INVS Nephronophthisis 3; 604387; NPHP3 Nephronophthisis 4; 606966; NPHP4 Nephronophthisis 7; 611498; GLIS2 Nephropathy with pretibial epidermolysis
List_of_OMIM_disorder_codes
Protein-coding gene in the species Homo sapiens
with JADE1, including: MAPT, pVHL, TIP60, HBO1, ING4, ING5, β-catenin, NPHP4. GRCh38: Ensembl release 89: ENSG00000077684 – Ensembl, May 2017 GRCm38:
JADE1
InterPro Family
RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and TUBG1. Also, it can interact with MyosinVa Mutations in the
RPGRIP1L
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Girl/Female
Arabic
Profit
Girl/Female
Hindu, Indian, Tamil
Goddess Lakshmi; Music
Boy/Male
Arabic, Muslim
High; Towering; Lofty; Tall
Girl/Female
Hindu, Indian, Sanskrit
Royalty; Loving; Goddess
Girl/Female
Anglo, Australian, British, Christian, English, Indian
Princess; Small Noble One; Noblewoman
Boy/Male
British, Danish, English
Peaceful Wolf
Girl/Female
Tamil
Goddess of learning, Saraswati
Female
Norse
Old Norse name derived from the word lif, LIFA means "life."
Boy/Male
Arabic, Australian, French, Muslim
Beautiful; Handsome
Boy/Male
Gujarati, Hindu, Indian, Kannada, Oriya, Telugu
Full of Light
NPHP4
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